Prenatal diagnosis · 2016
Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Kong Grace Wing Shan, Cao Ye, Huang Jin, Cheng Kwun Yue, Pursley Amber Nolen, Rosenfeld Jill Anne, Edwards Janice G, Chan Yiu Man, Cheung Sau Wai, Leung Tak Yeung, Choy Kwong Wai
Аннотация
OBJECTIVES: The phenotype for 10q22q23 duplication is diverse, ranging from intellectual disability and dysmorphism to normal development. Interpreting the clinical significance of the duplication identified in this region is difficult, especially in the prenatal setting. This study aimed to characterize the prenatal findings associated with this submicroscopic imbalance and discuss the dilemmas in predicting the phenotype of 10q22q23 duplications.
METHODS: This is a retrospective study of three cases of 10q22q23 duplications diagnosed prenatally by chromosomal microarray analysis. Detailed pregnancy outcome and pediatric follow-up were documented.
RESULTS: The genotypic and phenotypic features of the reported cases were discussed. 10q22q23 duplications are associated with an unpredictable and variable phenotypic outcome. Despite there was no phenotype found to be shared by 50% of the duplication cases, congenital heart defects, hypotelorism, and developmental delays including speech and motor delay seem to be more common.
CONCLUSIONS: The phenotype of 10q22q23 duplication is highly variable prenatally and postnatally. Identification of additional affected individuals with similar duplications is needed to provide further insights into the pathogenesis of this microduplication. © 2016 John Wiley & Sons, Ltd.
METHODS: This is a retrospective study of three cases of 10q22q23 duplications diagnosed prenatally by chromosomal microarray analysis. Detailed pregnancy outcome and pediatric follow-up were documented.
RESULTS: The genotypic and phenotypic features of the reported cases were discussed. 10q22q23 duplications are associated with an unpredictable and variable phenotypic outcome. Despite there was no phenotype found to be shared by 50% of the duplication cases, congenital heart defects, hypotelorism, and developmental delays including speech and motor delay seem to be more common.
CONCLUSIONS: The phenotype of 10q22q23 duplication is highly variable prenatally and postnatally. Identification of additional affected individuals with similar duplications is needed to provide further insights into the pathogenesis of this microduplication. © 2016 John Wiley & Sons, Ltd.
Предметные рубрики MeSH
Chromosome DuplicationChromosomes, Human, Pair 10Congenital AbnormalitiesDevelopmental DisabilitiesDiseases in TwinsFemaleFetal Growth RetardationGenotypeHumansIn Situ Hybridization, FluorescenceMicroarray AnalysisNuchal Translucency MeasurementPhenotypePregnancyPregnancy, TwinPrenatal DiagnosisRetrospective StudiesUltrasonography, Prenatal