Mosaic trisomy 22: A case presentation and literature review of trisomy 22 phenotypes
Identifieur interne : 00BA53 ( Main/Exploration ); précédent : 00BA52; suivant : 00BA54Mosaic trisomy 22: A case presentation and literature review of trisomy 22 phenotypes
Auteurs : Carol A. Crowe [États-Unis] ; Stuart Schwartz [États-Unis] ; Cynthia J. Black [États-Unis] ; Vikram JaswaneySource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1997-09-05.
Abstract
In a case of mosaic trisomy 22 the trisomic cells were detected primarily in fibroblasts. Results of initial lymphocyte chromosome analysis were normal. However, mosaicism was suspected because the patient had hypomelanosis of Ito, hemiatrophy, failure to thrive, and mental retardation. Mosaicism was confirmed in cultured fibroblasts. Repeat cytogenetic analysis of peripheral blood demonstrated a low level of trisomic metaphase cells, which was confirmed by interphase fluorescent in situ hybridization (FISH) analysis. Molecular studies supported maternal disomy in the child's disomic cells. The phenotype of this condition overlaps that of non‐mosaic trisomy 22 chromosome mosaicism in general and to some extent the Ullrich‐Turner syndrome phenotype. Improved cytogenetic and molecular techniques now allow better delineation of aneuploidy syndromes. Molecular and FISH studies added information about this case (mosaicism and uniparental disomy) not appreciated by routine cytogenetic analysis of lymphocytes. The detection of low‐level mosaicism and/or uniparental disomy in such cases may change the clinical classification and our understanding of pathogenesis and recurrence risk of these disorders. Am. J. Med. Genet. 71:406–413, 1997. © 1997 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/(SICI)1096-8628(19970905)71:4<406::AID-AJMG7>3.0.CO;2-R
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Black</name></author><author><name sortKey="Jaswaney, Vikram" sort="Jaswaney, Vikram" uniqKey="Jaswaney V" first="Vikram" last="Jaswaney">Vikram Jaswaney</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:B515EFCA2D4AE9D01FD2659774764424FC776F0A</idno><date when="1997" year="1997">1997</date><idno type="doi">10.1002/(SICI)1096-8628(19970905)71:4<406::AID-AJMG7>3.0.CO;2-R</idno><idno type="url">https://api.istex.fr/document/B515EFCA2D4AE9D01FD2659774764424FC776F0A/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">005511</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">005511</idno><idno type="wicri:Area/Istex/Curation">005511</idno><idno type="wicri:Area/Istex/Checkpoint">004006</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">004006</idno><idno type="wicri:doubleKey">0148-7299:1997:Crowe C:mosaic:trisomy:a</idno><idno type="wicri:Area/Main/Merge">00C226</idno><idno type="wicri:Area/Main/Curation">00BA53</idno><idno type="wicri:Area/Main/Exploration">00BA53</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Mosaic trisomy 22: A case presentation and literature review of trisomy 22 phenotypes</title><author><name sortKey="Crowe, Carol A" sort="Crowe, Carol A" uniqKey="Crowe C" first="Carol A." last="Crowe">Carol A. Crowe</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Department of Pediatrics, Metrohealth Medical Center, Cleveland</wicri:cityArea></affiliation><affiliation></affiliation></author><author><name sortKey="Schwartz, Stuart" sort="Schwartz, Stuart" uniqKey="Schwartz S" first="Stuart" last="Schwartz">Stuart Schwartz</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Department of Genetics and Center for Human Genetics, University Hospitals of Cleveland, Case Western Reserve University, Cleveland</wicri:cityArea></affiliation></author><author><name sortKey="Black, Cynthia J" sort="Black, Cynthia J" uniqKey="Black C" first="Cynthia J." last="Black">Cynthia J. Black</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Department of Pediatrics, Metrohealth Medical Center, Cleveland</wicri:cityArea></affiliation></author><author><name sortKey="Jaswaney, Vikram" sort="Jaswaney, Vikram" uniqKey="Jaswaney V" first="Vikram" last="Jaswaney">Vikram Jaswaney</name><affiliation><wicri:noCountry code="subField">Worcester</wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><biblScope unit="vol">71</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="406">406</biblScope><biblScope unit="page" to="413">413</biblScope><biblScope unit="page-count">8</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1997-09-05">1997-09-05</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">In a case of mosaic trisomy 22 the trisomic cells were detected primarily in fibroblasts. Results of initial lymphocyte chromosome analysis were normal. However, mosaicism was suspected because the patient had hypomelanosis of Ito, hemiatrophy, failure to thrive, and mental retardation. Mosaicism was confirmed in cultured fibroblasts. Repeat cytogenetic analysis of peripheral blood demonstrated a low level of trisomic metaphase cells, which was confirmed by interphase fluorescent in situ hybridization (FISH) analysis. Molecular studies supported maternal disomy in the child's disomic cells. The phenotype of this condition overlaps that of non‐mosaic trisomy 22 chromosome mosaicism in general and to some extent the Ullrich‐Turner syndrome phenotype. Improved cytogenetic and molecular techniques now allow better delineation of aneuploidy syndromes. Molecular and FISH studies added information about this case (mosaicism and uniparental disomy) not appreciated by routine cytogenetic analysis of lymphocytes. The detection of low‐level mosaicism and/or uniparental disomy in such cases may change the clinical classification and our understanding of pathogenesis and recurrence risk of these disorders. Am. J. Med. Genet. 71:406–413, 1997. © 1997 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Ohio</li></region></list><tree><noCountry><name sortKey="Jaswaney, Vikram" sort="Jaswaney, Vikram" uniqKey="Jaswaney V" first="Vikram" last="Jaswaney">Vikram Jaswaney</name></noCountry><country name="États-Unis"><region name="Ohio"><name sortKey="Crowe, Carol A" sort="Crowe, Carol A" uniqKey="Crowe C" first="Carol A." last="Crowe">Carol A. Crowe</name></region><name sortKey="Black, Cynthia J" sort="Black, Cynthia J" uniqKey="Black C" first="Cynthia J." last="Black">Cynthia J. Black</name><name sortKey="Schwartz, Stuart" sort="Schwartz, Stuart" uniqKey="Schwartz S" first="Stuart" last="Schwartz">Stuart Schwartz</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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