| Second-trimester detection of Mowat-Wilson syndrome using comparative genomic hybridization microarray testing. | |
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MedLine Citation:
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PMID: 20093881 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Fetuses with increased nuchal translucency but apparently normal karyotypes may have small genetic defects that are undetectable by conventional cytogenetic studies. Microarray comparative genomic hybridization (array comparative genomic hybridization) may help prenatal diagnosis by revealing small genetic defects. CASE: A patient presented with a fetus with large nuchal translucency and ambiguous genitalia at 13 weeks of gestation. Conventional fetal karyotype by chorionic villus sampling was 46,XY,inv (1)(p31q42). The inversion was de novo. Further analysis by array comparative genomic hybridization revealed a single-copy ZEB2 gene deletion at 2q22.3 consistent with Mowat-Wilson syndrome. Ultrasonography at 17 weeks revealed a reduced nuchal fold of 5 mm. The patient decided to terminate the pregnancy, which was completed uneventfully at 17 weeks of gestation. CONCLUSION: Array comparative genomic hybridization is a useful complementary diagnostic tool in fetuses with increased nuchal translucency but apparently normal karyotypes. |
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Authors:
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Kwong Wai Choy; Ka Fai To; Anthony Wing Hung Chan; Tze Kin Lau; Tak Yeung Leung |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Obstetrics and gynecology Volume: 115 ISSN: 1873-233X ISO Abbreviation: Obstet Gynecol Publication Date: 2010 Feb |
Date Detail:
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Created Date: 2010-01-22 Completed Date: 2010-05-26 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0401101 Medline TA: Obstet Gynecol Country: United States |
Other Details:
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Languages: eng Pagination: 462-5 Citation Subset: AIM; IM |
Affiliation:
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Fetal Medicine Unit, Department of Obstetrics and Gynecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong SAR. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis*,
genetics* Abortion, Induced Adult Chromosome Inversion / genetics Chromosomes, Human, Pair 1 / genetics Comparative Genomic Hybridization* Female Gene Deletion Homeodomain Proteins / genetics Humans Karyotyping Microarray Analysis Nuchal Translucency Measurement* Pregnancy Pregnancy Trimester, Second Repressor Proteins / genetics Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Homeodomain Proteins; 0/Repressor Proteins; 0/ZEB2 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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