Partial trisomy D: a diagnostic and cytogenetic dilemma.
- 1 December 1976
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 13 (6) , 535-538
- https://doi.org/10.1136/jmg.13.6.535
Abstract
An 18 mo. old proposita with psychomotor retardation and other congenital abnormalities is presented. Chromosomal analysis of both parents proved normal. However, the karyotype of the proposita contained 47 chromosomes in both lymphocytes and cultured fibroblasts. The marker chromosome proved to be a deleted No. 14 or 15. Comparison of the reported cases of partial trisomy D indicates that a definitive clinical syndrome is not apparent in either case.This publication has 11 references indexed in Scilit:
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