Case Reports
doi: 10.1007/BF00287182.
Down's syndrome in brother and sister without evident trisomy 21
- PMID: 159858
- DOI: 10.1007/BF00287182
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Case Reports
Down's syndrome in brother and sister without evident trisomy 21
Hum Genet.
.
Abstract
In the present report two siblings with the typical Down's phenotype but without evident full or partial 21 trisomy are described. The finding of a regular 21 trisomy in a minority of the cells in the elder patient favors the hypothesis that both present a hardly demonstrable normal/trisomy 21 mosaicism and may be examples of a constitutional familial tendency to nondisjunction in man.
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