Obstetrics and gynecology · 2010
Second-trimester detection of Mowat-Wilson syndrome using comparative genomic hybridization microarray testing.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Choy Kwong Wai, To Ka Fai, Chan Anthony Wing Hung, Lau Tze Kin, Leung Tak Yeung
Аннотация
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.
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.
Предметные рубрики MeSH
Abnormalities, MultipleAbortion, InducedAdultChromosome InversionChromosomes, Human, Pair 1Comparative Genomic HybridizationFemaleGene DeletionHomeodomain ProteinsHumansKaryotypingMicroarray AnalysisNuchal Translucency MeasurementPregnancyPregnancy Trimester, SecondRepressor ProteinsSyndromeZinc Finger E-box Binding Homeobox 2