Down's syndrome in brother and sister without evident trisomy 21

C Parloir; J P Fryns; H Van den Berghe

doi:10.1007/BF00287182

Down's syndrome in brother and sister without evident trisomy 21

Hum Genet. 1979 Oct 1;51(2):227-30. doi: 10.1007/BF00287182.

Authors

C Parloir, J P Fryns, H Van den Berghe

PMID: 159858
DOI: 10.1007/BF00287182

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.

Publication types

Case Reports

MeSH terms

Adolescent
Adult
Chromosomes, Human, 21-22 and Y*
Down Syndrome / genetics*
Female
Humans
Karyotyping
Male
Mosaicism
Phenotype
Trisomy*