Trisomy 8p (p11.2-pter) due to maternal translocation t(8;13)(p11;p12) in a child with dysmorphic features
نویسنده
چکیده
Here we present a phenotypic description of a male child with trisomy 8p resulting from a maternal balanced reciprocal translocation. The patient presented with dysmorphic face, aplasia of the corpus callosum, and atrophy of cortex, congenital heart defect and marked hypotonia. The father had a normal karyotype. The mother had an apparently balanced translocation involving chromosomes 8 and 13 [46, XX, t(8;13)(p11.2;p12)]. The karyotype of the child was ascertained as 46, XY, der(13)t(8;13)(p11.2;p12). This is the second reported case of trisomy 8p resulting from a translocation between chromosomes 8 and 13. The chromosomal breakpoints in the two cases differed.
منابع مشابه
The clinical phenotype of the derivative (8)t(7;8)(q22;p23.3) in two siblings
Trisomy 7q or 7q duplication has been described with specific craniofacial dysmorphic features and clinical manifestations, since the chromosomal abnormality was first described by Vogel et al. in 1973 1, 2) . But, trisomy 7p syndrome rarely originates de novo; it usually results from a parental balanced translocation, which alters the phenotype attributable to trisomy7q. Here we report on two ...
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