Chromosomal Mosaicism in Down's Syndrome: a Diagnostic Challenge
- 1 October 1977
- journal article
- research article
- Published by Wiley in Developmental Medicine and Child Neurology
- Vol. 19 (5) , 668-672
- https://doi.org/10.1111/j.1469-8749.1977.tb08001.x
Abstract
In individuals with mosaicism for trisomy 21, phenotype-karyotype correlations are unpredictable. Two patients are described, one with typical features of Down''s syndrome and the other with severe retardation only. Both had normal karyotypes in their peripheral lymphocytes but high percentages of trisomic cells in skin fibroblasts.This publication has 10 references indexed in Scilit:
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