Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients
Identifieur interne : 004814 ( Istex/Curation ); précédent : 004813; suivant : 004815Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients
Auteurs : M. I. Kavamura [Italie, Brésil] ; M. Zollino [Italie] ; R. Lecce [Italie] ; M. Murdolo [Italie] ; D. Brunoni [Brésil] ; M. M. A. Alchorne [Brésil] ; J. M. Opitz [Italie, États-Unis] ; G. Neri [Italie]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2003-06-01.
Abstract
Recent publications described two patients with a CFC‐like phenotype and the same deletion of chromosome region 12q21.2q22 [Rauen et al., 2000, 2002]. The patients did not have the classical CFC phenotype and presented other signs not usually seen in CFC patients: the first patient had hydrocephalus, and the second, a history of olygohydramnios, normal stature, pyloric stenosis, cutaneous syndactyly of toes and bilateral transverse palmar creases. In order to verify if classic CFC patients with normal chromosomes in conventional preparations have microdeletions within the 12q21.2q22 chromosome region, we performed FISH analysis using 12 BAC probes to screen this area. The average interval between the probes was of approximately 1 Mb. No deletions were found in any of the 17 classical CFC patients we examined. We conclude that the region 12q21.2q22 is not a candidate region for CFC syndrome and that the patients described by Rauen et al. [2000, 2002] probably have a different condition, i.e., an aneuploidy syndrome, with some phenotypic resemblance to the CFC syndrome. To further evaluate the possibility of other chromosome imbalances, we performed a subtelomeric analysis, by FISH technique, of all chromosomes, and did not find any subtelomeric rearrangements. © 2003 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.a.10198
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Zollino</name><affiliation wicri:level="1"><mods:affiliation>Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Rome, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Rome</wicri:regionArea></affiliation></author><author><name sortKey="Lecce, R" sort="Lecce, R" uniqKey="Lecce R" first="R." last="Lecce">R. Lecce</name><affiliation wicri:level="1"><mods:affiliation>Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Rome, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Rome</wicri:regionArea></affiliation></author><author><name sortKey="Murdolo, M" sort="Murdolo, M" uniqKey="Murdolo M" first="M." last="Murdolo">M. Murdolo</name><affiliation wicri:level="1"><mods:affiliation>Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Rome, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Rome</wicri:regionArea></affiliation></author><author><name sortKey="Brunoni, D" sort="Brunoni, D" uniqKey="Brunoni D" first="D." last="Brunoni">D. Brunoni</name><affiliation wicri:level="1"><mods:affiliation>Centro de Genética Médica, Universidade Federal de São Paulo‐Escola Paulista de Medicina, São Paulo, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Centro de Genética Médica, Universidade Federal de São Paulo‐Escola Paulista de Medicina, São Paulo</wicri:regionArea></affiliation></author><author><name sortKey="Alchorne, M M A" sort="Alchorne, M M A" uniqKey="Alchorne M" first="M. M. A." last="Alchorne">M. M. A. Alchorne</name><affiliation wicri:level="1"><mods:affiliation>Departamento de Dermatologia, Universidade Federal de São Paulo‐Escola Paulista de Medicina, São Paulo, Brazil</mods:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Departamento de Dermatologia, Universidade Federal de São Paulo‐Escola Paulista de Medicina, São Paulo</wicri:regionArea></affiliation></author><author><name sortKey="Opitz, J M" sort="Opitz, J M" uniqKey="Opitz J" first="J. M." last="Opitz">J. M. Opitz</name><affiliation wicri:level="1"><mods:affiliation>Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Rome, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Rome</wicri:regionArea></affiliation><affiliation wicri:level="2"><mods:affiliation>Pediatrics (Medical Genetics), Human Genetics, Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Pediatrics (Medical Genetics), Human Genetics, Obstetrics and Gynecology, University of Utah, Salt Lake City</wicri:cityArea></affiliation></author><author><name sortKey="Neri, G" sort="Neri, G" uniqKey="Neri G" first="G." last="Neri">G. Neri</name><affiliation wicri:level="1"><mods:affiliation>Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Rome, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Rome</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">119A</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="177">177</biblScope><biblScope unit="page" to="179">179</biblScope><biblScope unit="page-count">3</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2003-06-01">2003-06-01</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="fr">Recent publications described two patients with a CFC‐like phenotype and the same deletion of chromosome region 12q21.2q22 [Rauen et al., 2000, 2002]. The patients did not have the classical CFC phenotype and presented other signs not usually seen in CFC patients: the first patient had hydrocephalus, and the second, a history of olygohydramnios, normal stature, pyloric stenosis, cutaneous syndactyly of toes and bilateral transverse palmar creases. In order to verify if classic CFC patients with normal chromosomes in conventional preparations have microdeletions within the 12q21.2q22 chromosome region, we performed FISH analysis using 12 BAC probes to screen this area. The average interval between the probes was of approximately 1 Mb. No deletions were found in any of the 17 classical CFC patients we examined. We conclude that the region 12q21.2q22 is not a candidate region for CFC syndrome and that the patients described by Rauen et al. [2000, 2002] probably have a different condition, i.e., an aneuploidy syndrome, with some phenotypic resemblance to the CFC syndrome. To further evaluate the possibility of other chromosome imbalances, we performed a subtelomeric analysis, by FISH technique, of all chromosomes, and did not find any subtelomeric rearrangements. © 2003 Wiley‐Liss, Inc.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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