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• W2000267269 abstract "Duplications of the long arm of the X chromosome are rare. The infantile phenotype shares some resemblance with the Prader–Willi syndrome, presenting severe psychomotor retardation, facial dysmorphic features with a broad face, a small mouth and a thin pointed nose, hypotonia, urogenital malformation and proneness to infections. We report a boy with an additional Xq27-qter chromosome segment translocated onto the short arm of chromosome 3. The karyotype was 46,XY,der(3)t(X;3)(q27.3; p26.3)mat. This cryptic unbalanced X-autosome translocation resulted in Xq27-qter functional disomy and a deletion 3p26.3. A detailed analysis of the constitutional chromosomal changes in the patient was performed using array-CGH, FISH and PCR. The aim was to characterize the size and the location of the duplication Xq27-qter (8.18 Mb) and of the deletion 3p26.3 (1.05 Mb), to establish phenotype–genotype correlations and to offer genetic counselling." @default.
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• W2000267269 date "2012-08-01" @default.
• W2000267269 modified "2023-09-24" @default.
• W2000267269 title "Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader–Willi like features and hypotonia" @default.
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• W2000267269 doi "https://doi.org/10.1016/j.ejmg.2012.04.011" @default.
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