Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
Vol. 11, No. 2, 2005, pp. 111-113
Bioline Code: hg05014
Full paper language: English
Document type: Research Article
Document available free of charge
Indian Journal of Human Genetics, Vol. 11, No. 2, 2005, pp. 111-113
© Copyright 2005 Indian Journal of Human Genetics.
Case Reports- Trisomy 8p (p11.2-pter) due to maternal translocation t(8;13)(p11;p12) in a child with dysmorphic features|
Mahjoubi F, Totian S, Kareeme S, Shafegatee Y
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.
Cardiac defect; developmental delay; translocation; trisomy 8p
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