A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14).
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ABSTRACT:
SUBMITTER: Romero VI
PROVIDER: S-EPMC7519037 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
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A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der(Y)t(Y;14).
Romero V I VI Pozo J C JC Saenz S S Llamos-Paneque A A Liehr T T Hosomichi K K Tajima A A
Human genome variation 20200925
A 1-year-old baby with phylloid-type pigmentary mosaicism, hypotonia, ambiguous genitalia, and a positive screening test for congenital adrenal hyperplasia was referred. Previous sonograph, cytogenetics, and metabolic profile were inconclusive, therefore we performed an additional karyotype and a molecular cytogenetics studies. A mosaic karyotype 45,X/46,X,der(Y)t(Y;14) was characterized in peripheral blood. Congenital adrenal hyperplasia genes were sequenced and the results were negative. The a ...[more]
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