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Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

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Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

Auteurs : Thomas Eggermann [Allemagne] ; Frédéric Brioude [France] ; Silvia Russo [Italie] ; Maria P. Lombardi [Pays-Bas] ; Jet Bliek [Pays-Bas] ; Eamonn R. Maher [Royaume-Uni] ; Lidia Larizza [Italie] ; Dirk Prawitt [Allemagne] ; Irène Netchine [France] ; Marie Gonzales [France] ; Karen Gr Nskov [Danemark] ; Zeynep Tümer [Danemark] ; David Monk [Espagne] ; Marcel Mannens [Pays-Bas] ; Krystyna Chrzanowska [Pologne] ; Malgorzata K. Walasek [Pologne] ; Matthias Begemann [Allemagne] ; Lukas Soellner [Allemagne] ; Katja Eggermann [Allemagne] ; Jair Tenorio [Espagne] ; Julián Nevado [Espagne] ; Gudrun E. Moore [Royaume-Uni] ; Deborah Jg Mackay [Royaume-Uni] ; Karen Temple [Royaume-Uni] ; Gabriele Gillessen-Kaesbach [Allemagne] ; Tsutomu Ogata [Japon] ; Rosanna Weksberg [Canada] ; Elizabeth Algar [Australie] ; Pablo Lapunzina [Espagne]

Source :

European Journal of Human Genetics [ 1018-4813 ] ; 2015.

RBID : PMC:4867462

Descripteurs français

KwdFr :
- Conseil génétique (), Conseil génétique (normes), Diagnostic prénatal (), Diagnostic prénatal (normes), Dépistage génétique (), Dépistage génétique (normes), Humains, Syndrome de Beckwith-Wiedemann (diagnostic), Syndrome de Beckwith-Wiedemann (génétique), Syndrome de Silver-Russell (diagnostic), Syndrome de Silver-Russell (génétique).
MESH :
- diagnostic : Syndrome de Beckwith-Wiedemann, Syndrome de Silver-Russell.
- génétique : Syndrome de Beckwith-Wiedemann, Syndrome de Silver-Russell.
- normes : Conseil génétique, Diagnostic prénatal, Dépistage génétique.
- Conseil génétique, Diagnostic prénatal, Dépistage génétique, Humains.

English descriptors

KwdEn :
- Beckwith-Wiedemann Syndrome (diagnosis), Beckwith-Wiedemann Syndrome (genetics), Genetic Counseling (methods), Genetic Counseling (standards), Genetic Testing (methods), Genetic Testing (standards), Humans, Prenatal Diagnosis (methods), Prenatal Diagnosis (standards), Silver-Russell Syndrome (diagnosis), Silver-Russell Syndrome (genetics).
MESH :
- diagnosis : Beckwith-Wiedemann Syndrome, Silver-Russell Syndrome.
- genetics : Beckwith-Wiedemann Syndrome, Silver-Russell Syndrome.
- methods : Genetic Counseling, Genetic Testing, Prenatal Diagnosis.
- standards : Genetic Counseling, Genetic Testing, Prenatal Diagnosis.
- Humans.

Abstract

Beckwith–Wiedemann and Silver–Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are observed in >70% of patients, whereas in SRS they are observed in about 60% of the cases. In addition, 10% of the SRS patients carry a maternal uniparental disomy of chromosome 7 11p15.5. There is an increasing demand for prenatal testing of these disorders owing to family history, indicative prenatal ultrasound findings or aberrations involving chromosomes 7 and 11. The complex molecular findings underlying these disorders are a challenge not only for laboratories offering these tests but also for geneticists counseling affected families. The scope of counseling must consider the range of detectable disturbances and their origin, the lack of precise quantitative knowledge concerning the inheritance and recurrence risks for the epigenetic abnormalities, which are hallmarks of these developmental disorders. In this paper, experts in the field of BWS and SRS, including members of the European network of congenital IDs (EUCID.net; www.imprinting-disorders.eu), put together their experience and work in the field of 11p15.5-associated IDs with a focus on prenatal testing. Altogether, prenatal tests of 160 fetuses (122 referred for BWS, 38 for SRS testing) from 5 centers were analyzed and reviewed. We summarize the current knowledge on BWS and SRS with respect to diagnostic testing, the consequences for prenatal genetic testing and counseling and our cumulative experience in dealing with these disorders.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867462

DOI: 10.1038/ejhg.2015.224
PubMed: 26508573
PubMed Central: 4867462

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Le document en format XML

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<author><name sortKey="Netchine, Irene" sort="Netchine, Irene" uniqKey="Netchine I" first="Irène" last="Netchine">Irène Netchine</name>
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<author><name sortKey="Gonzales, Marie" sort="Gonzales, Marie" uniqKey="Gonzales M" first="Marie" last="Gonzales">Marie Gonzales</name>
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<author><name sortKey="Monk, David" sort="Monk, David" uniqKey="Monk D" first="David" last="Monk">David Monk</name>
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, Barcelona,<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Mannens, Marcel" sort="Mannens, Marcel" uniqKey="Mannens M" first="Marcel" last="Mannens">Marcel Mannens</name>
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, Amsterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Chrzanowska, Krystyna" sort="Chrzanowska, Krystyna" uniqKey="Chrzanowska K" first="Krystyna" last="Chrzanowska">Krystyna Chrzanowska</name>
<affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Department of Medical Genetics, The Children's Memorial Health Insitute</institution>
, Warsaw,<country>Poland</country>
</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Walasek, Malgorzata K" sort="Walasek, Malgorzata K" uniqKey="Walasek M" first="Malgorzata K" last="Walasek">Malgorzata K. Walasek</name>
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, Warsaw,<country>Poland</country>
</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Begemann, Matthias" sort="Begemann, Matthias" uniqKey="Begemann M" first="Matthias" last="Begemann">Matthias Begemann</name>
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<author><name sortKey="Soellner, Lukas" sort="Soellner, Lukas" uniqKey="Soellner L" first="Lukas" last="Soellner">Lukas Soellner</name>
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<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Eggermann, Katja" sort="Eggermann, Katja" uniqKey="Eggermann K" first="Katja" last="Eggermann">Katja Eggermann</name>
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, Aachen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Tenorio, Jair" sort="Tenorio, Jair" uniqKey="Tenorio J" first="Jair" last="Tenorio">Jair Tenorio</name>
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, Madrid,<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff15"><institution>CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII</institution>
, Madrid,<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nevado, Julian" sort="Nevado, Julian" uniqKey="Nevado J" first="Julián" last="Nevado">Julián Nevado</name>
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, Madrid,<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff15"><institution>CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII</institution>
, Madrid,<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Moore, Gudrun E" sort="Moore, Gudrun E" uniqKey="Moore G" first="Gudrun E" last="Moore">Gudrun E. Moore</name>
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</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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</author>
<author><name sortKey="Mackay, Deborah Jg" sort="Mackay, Deborah Jg" uniqKey="Mackay D" first="Deborah Jg" last="Mackay">Deborah Jg Mackay</name>
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</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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</author>
<author><name sortKey="Temple, Karen" sort="Temple, Karen" uniqKey="Temple K" first="Karen" last="Temple">Karen Temple</name>
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</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name>
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, Lübeck,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ogata, Tsutomu" sort="Ogata, Tsutomu" uniqKey="Ogata T" first="Tsutomu" last="Ogata">Tsutomu Ogata</name>
<affiliation wicri:level="1"><nlm:aff id="aff19"><institution>Department of Pediatrics, Hamamatsu University School of Medicine</institution>
, Hamamastu,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Weksberg, Rosanna" sort="Weksberg, Rosanna" uniqKey="Weksberg R" first="Rosanna" last="Weksberg">Rosanna Weksberg</name>
<affiliation wicri:level="1"><nlm:aff id="aff20"><institution>Program in Genetics and Genome Biology, The Hospital for Sick Children</institution>
, Toronto, Ontario,<country>Canada</country>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff21"><institution>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children</institution>
, Toronto, Ontario,<country>Canada</country>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff22"><institution>Department of Molecular Genetics, University of Toronto</institution>
, Toronto, Ontario,<country>Canada</country>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff23"><institution>Institute of Medical Science, University of Toronto</institution>
, Toronto, Ontario,<country>Canada</country>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff24"><institution>Department of Pediatrics, University of Toronto</institution>
, Toronto, Ontario,<country>Canada</country>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Algar, Elizabeth" sort="Algar, Elizabeth" uniqKey="Algar E" first="Elizabeth" last="Algar">Elizabeth Algar</name>
<affiliation wicri:level="1"><nlm:aff id="aff25"><institution>Genetics and Molecular Pathology Laboratory, Monash Health and Hudson Institute</institution>
, Clayton, Victoria,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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</author>
<author><name sortKey="Lapunzina, Pablo" sort="Lapunzina, Pablo" uniqKey="Lapunzina P" first="Pablo" last="Lapunzina">Pablo Lapunzina</name>
<affiliation wicri:level="1"><nlm:aff id="aff14"><institution>Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz</institution>
, Madrid,<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff15"><institution>CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII</institution>
, Madrid,<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling</title>
<author><name sortKey="Eggermann, Thomas" sort="Eggermann, Thomas" uniqKey="Eggermann T" first="Thomas" last="Eggermann">Thomas Eggermann</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institut für Humangenetik, RWTH University Aachen</institution>
, Aachen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Brioude, Frederic" sort="Brioude, Frederic" uniqKey="Brioude F" first="Frédéric" last="Brioude">Frédéric Brioude</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>INSERM, UMR_S 938</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Sorbonne Universities, UPMC Univ Paris 06</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Armand Trousseau Hospital, Pediatric Endocrinology</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Russo, Silvia" sort="Russo, Silvia" uniqKey="Russo S" first="Silvia" last="Russo">Silvia Russo</name>
<affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Laboratory of Cytogenetics and Molecular Genetics Istituto Auxologico Italiano IRCCS</institution>
, Milano,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lombardi, Maria P" sort="Lombardi, Maria P" uniqKey="Lombardi M" first="Maria P" last="Lombardi">Maria P. Lombardi</name>
<affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Department of Clinical Genetics, Academic Center, University of Amsterdam</institution>
, Amsterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bliek, Jet" sort="Bliek, Jet" uniqKey="Bliek J" first="Jet" last="Bliek">Jet Bliek</name>
<affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Department of Clinical Genetics, Academic Center, University of Amsterdam</institution>
, Amsterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Maher, Eamonn R" sort="Maher, Eamonn R" uniqKey="Maher E" first="Eamonn R" last="Maher">Eamonn R. Maher</name>
<affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre</institution>
, Cambridge,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Larizza, Lidia" sort="Larizza, Lidia" uniqKey="Larizza L" first="Lidia" last="Larizza">Lidia Larizza</name>
<affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Laboratory of Cytogenetics and Molecular Genetics Istituto Auxologico Italiano IRCCS</institution>
, Milano,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Prawitt, Dirk" sort="Prawitt, Dirk" uniqKey="Prawitt D" first="Dirk" last="Prawitt">Dirk Prawitt</name>
<affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Center for Pediatrics and Adolescent Medicine, University Medical Center</institution>
, Mainz,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Netchine, Irene" sort="Netchine, Irene" uniqKey="Netchine I" first="Irène" last="Netchine">Irène Netchine</name>
<affiliation wicri:level="1"><nlm:aff id="aff2"><institution>INSERM, UMR_S 938</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3"><institution>Sorbonne Universities, UPMC Univ Paris 06</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff4"><institution>Armand Trousseau Hospital, Pediatric Endocrinology</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gonzales, Marie" sort="Gonzales, Marie" uniqKey="Gonzales M" first="Marie" last="Gonzales">Marie Gonzales</name>
<affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Department of Medical Genetics, Armand Trousseau Hospital, AP-HP</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Sorbonne Universitie, UPMC Univ Paris 06</institution>
, Paris,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gr Nskov, Karen" sort="Gr Nskov, Karen" uniqKey="Gr Nskov K" first="Karen" last="Gr Nskov">Karen Gr Nskov</name>
<affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Clinical Genetic Unit, Kennedy Center, Rigshospitalet, Copenhagen University Hospital</institution>
, Glostrup,<country>Denmark</country>
</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Tumer, Zeynep" sort="Tumer, Zeynep" uniqKey="Tumer Z" first="Zeynep" last="Tümer">Zeynep Tümer</name>
<affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Clinical Genetic Unit, Kennedy Center, Rigshospitalet, Copenhagen University Hospital</institution>
, Glostrup,<country>Denmark</country>
</nlm:aff>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Monk, David" sort="Monk, David" uniqKey="Monk D" first="David" last="Monk">David Monk</name>
<affiliation wicri:level="1"><nlm:aff id="aff12"><institution>Imprinting and Cancer Group, Cancer Epigenetic and Biology Program (PEBC), Institut d'Investigació Biomedica de Bellvitge (IDIBELL)</institution>
, Barcelona,<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mannens, Marcel" sort="Mannens, Marcel" uniqKey="Mannens M" first="Marcel" last="Mannens">Marcel Mannens</name>
<affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Department of Clinical Genetics, Academic Center, University of Amsterdam</institution>
, Amsterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Chrzanowska, Krystyna" sort="Chrzanowska, Krystyna" uniqKey="Chrzanowska K" first="Krystyna" last="Chrzanowska">Krystyna Chrzanowska</name>
<affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Department of Medical Genetics, The Children's Memorial Health Insitute</institution>
, Warsaw,<country>Poland</country>
</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Walasek, Malgorzata K" sort="Walasek, Malgorzata K" uniqKey="Walasek M" first="Malgorzata K" last="Walasek">Malgorzata K. Walasek</name>
<affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Department of Medical Genetics, The Children's Memorial Health Insitute</institution>
, Warsaw,<country>Poland</country>
</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Begemann, Matthias" sort="Begemann, Matthias" uniqKey="Begemann M" first="Matthias" last="Begemann">Matthias Begemann</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institut für Humangenetik, RWTH University Aachen</institution>
, Aachen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Soellner, Lukas" sort="Soellner, Lukas" uniqKey="Soellner L" first="Lukas" last="Soellner">Lukas Soellner</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institut für Humangenetik, RWTH University Aachen</institution>
, Aachen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Eggermann, Katja" sort="Eggermann, Katja" uniqKey="Eggermann K" first="Katja" last="Eggermann">Katja Eggermann</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Institut für Humangenetik, RWTH University Aachen</institution>
, Aachen,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Tenorio, Jair" sort="Tenorio, Jair" uniqKey="Tenorio J" first="Jair" last="Tenorio">Jair Tenorio</name>
<affiliation wicri:level="1"><nlm:aff id="aff14"><institution>Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz</institution>
, Madrid,<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff15"><institution>CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII</institution>
, Madrid,<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nevado, Julian" sort="Nevado, Julian" uniqKey="Nevado J" first="Julián" last="Nevado">Julián Nevado</name>
<affiliation wicri:level="1"><nlm:aff id="aff14"><institution>Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz</institution>
, Madrid,<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff15"><institution>CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII</institution>
, Madrid,<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Moore, Gudrun E" sort="Moore, Gudrun E" uniqKey="Moore G" first="Gudrun E" last="Moore">Gudrun E. Moore</name>
<affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Fetal Growth and Developmental group, Genetics and Genomic Medicine Programme, UCL-ICH</institution>
, London,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mackay, Deborah Jg" sort="Mackay, Deborah Jg" uniqKey="Mackay D" first="Deborah Jg" last="Mackay">Deborah Jg Mackay</name>
<affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Human Genetics and Genomic Medicine, Faculty of Medicine University of Southampto; Wessex Clinical Genetics Service, Princess Anne Hospital</institution>
, Southampton,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Temple, Karen" sort="Temple, Karen" uniqKey="Temple K" first="Karen" last="Temple">Karen Temple</name>
<affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Human Genetics and Genomic Medicine, Faculty of Medicine University of Southampto; Wessex Clinical Genetics Service, Princess Anne Hospital</institution>
, Southampton,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gillessen Kaesbach, Gabriele" sort="Gillessen Kaesbach, Gabriele" uniqKey="Gillessen Kaesbach G" first="Gabriele" last="Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</name>
<affiliation wicri:level="1"><nlm:aff id="aff18"><institution>Institut für Humangenetik, Universität zu Lübeck</institution>
, Lübeck,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ogata, Tsutomu" sort="Ogata, Tsutomu" uniqKey="Ogata T" first="Tsutomu" last="Ogata">Tsutomu Ogata</name>
<affiliation wicri:level="1"><nlm:aff id="aff19"><institution>Department of Pediatrics, Hamamatsu University School of Medicine</institution>
, Hamamastu,<country>Japan</country>
</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Weksberg, Rosanna" sort="Weksberg, Rosanna" uniqKey="Weksberg R" first="Rosanna" last="Weksberg">Rosanna Weksberg</name>
<affiliation wicri:level="1"><nlm:aff id="aff20"><institution>Program in Genetics and Genome Biology, The Hospital for Sick Children</institution>
, Toronto, Ontario,<country>Canada</country>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff21"><institution>Division of Clinical and Metabolic Genetics, The Hospital for Sick Children</institution>
, Toronto, Ontario,<country>Canada</country>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff22"><institution>Department of Molecular Genetics, University of Toronto</institution>
, Toronto, Ontario,<country>Canada</country>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff23"><institution>Institute of Medical Science, University of Toronto</institution>
, Toronto, Ontario,<country>Canada</country>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff24"><institution>Department of Pediatrics, University of Toronto</institution>
, Toronto, Ontario,<country>Canada</country>
</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Algar, Elizabeth" sort="Algar, Elizabeth" uniqKey="Algar E" first="Elizabeth" last="Algar">Elizabeth Algar</name>
<affiliation wicri:level="1"><nlm:aff id="aff25"><institution>Genetics and Molecular Pathology Laboratory, Monash Health and Hudson Institute</institution>
, Clayton, Victoria,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lapunzina, Pablo" sort="Lapunzina, Pablo" uniqKey="Lapunzina P" first="Pablo" last="Lapunzina">Pablo Lapunzina</name>
<affiliation wicri:level="1"><nlm:aff id="aff14"><institution>Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz</institution>
, Madrid,<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff15"><institution>CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII</institution>
, Madrid,<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">European Journal of Human Genetics</title>
<idno type="ISSN">1018-4813</idno>
<idno type="eISSN">1476-5438</idno>
<imprint><date when="2015">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Beckwith-Wiedemann Syndrome (diagnosis)</term>
<term>Beckwith-Wiedemann Syndrome (genetics)</term>
<term>Genetic Counseling (methods)</term>
<term>Genetic Counseling (standards)</term>
<term>Genetic Testing (methods)</term>
<term>Genetic Testing (standards)</term>
<term>Humans</term>
<term>Prenatal Diagnosis (methods)</term>
<term>Prenatal Diagnosis (standards)</term>
<term>Silver-Russell Syndrome (diagnosis)</term>
<term>Silver-Russell Syndrome (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Conseil génétique ()</term>
<term>Conseil génétique (normes)</term>
<term>Diagnostic prénatal ()</term>
<term>Diagnostic prénatal (normes)</term>
<term>Dépistage génétique ()</term>
<term>Dépistage génétique (normes)</term>
<term>Humains</term>
<term>Syndrome de Beckwith-Wiedemann (diagnostic)</term>
<term>Syndrome de Beckwith-Wiedemann (génétique)</term>
<term>Syndrome de Silver-Russell (diagnostic)</term>
<term>Syndrome de Silver-Russell (génétique)</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Beckwith-Wiedemann Syndrome</term>
<term>Silver-Russell Syndrome</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Syndrome de Beckwith-Wiedemann</term>
<term>Syndrome de Silver-Russell</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Beckwith-Wiedemann Syndrome</term>
<term>Silver-Russell Syndrome</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Syndrome de Beckwith-Wiedemann</term>
<term>Syndrome de Silver-Russell</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genetic Counseling</term>
<term>Genetic Testing</term>
<term>Prenatal Diagnosis</term>
</keywords>
<keywords scheme="MESH" qualifier="normes" xml:lang="fr"><term>Conseil génétique</term>
<term>Diagnostic prénatal</term>
<term>Dépistage génétique</term>
</keywords>
<keywords scheme="MESH" qualifier="standards" xml:lang="en"><term>Genetic Counseling</term>
<term>Genetic Testing</term>
<term>Prenatal Diagnosis</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Humans</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Conseil génétique</term>
<term>Diagnostic prénatal</term>
<term>Dépistage génétique</term>
<term>Humains</term>
</keywords>
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<front><div type="abstract" xml:lang="en"><p>Beckwith–Wiedemann and Silver–Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are observed in >70% of patients, whereas in SRS they are observed in about 60% of the cases. In addition, 10% of the SRS patients carry a maternal uniparental disomy of chromosome 7 11p15.5. There is an increasing demand for prenatal testing of these disorders owing to family history, indicative prenatal ultrasound findings or aberrations involving chromosomes 7 and 11. The complex molecular findings underlying these disorders are a challenge not only for laboratories offering these tests but also for geneticists counseling affected families. The scope of counseling must consider the range of detectable disturbances and their origin, the lack of precise quantitative knowledge concerning the inheritance and recurrence risks for the epigenetic abnormalities, which are hallmarks of these developmental disorders. In this paper, experts in the field of BWS and SRS, including members of the European network of congenital IDs (EUCID.net; <ext-link ext-link-type="uri" xlink:href="http://www.imprinting-disorders.eu">www.imprinting-disorders.eu</ext-link>
), put together their experience and work in the field of 11p15.5-associated IDs with a focus on prenatal testing. Altogether, prenatal tests of 160 fetuses (122 referred for BWS, 38 for SRS testing) from 5 centers were analyzed and reviewed. We summarize the current knowledge on BWS and SRS with respect to diagnostic testing, the consequences for prenatal genetic testing and counseling and our cumulative experience in dealing with these disorders.</p>
</div>
</front>
</TEI>
</record>

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HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 002C84 | SxmlIndent | more

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{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    Ncbi
   |étape=   Curation
   |type=    RBID
   |clé=     PMC:4867462
   |texte=   Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling
}}

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HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i   -Sk "pubmed:26508573" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd   \
       | NlmPubMed2Wicri -a AustralieFrV1

This area was generated with Dilib version V0.6.33.
Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024

	Serveur d'exploration sur les relations entre la France et l'Australie
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Serveur d'exploration sur les relations entre la France et l'Australie

Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

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