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

✍ Scribed by C. Parloir; J. P. Fryns; H. Berghe

Publisher
Springer
Year
1979
Tongue
English
Weight
219 KB
Volume
51
Category
Article
ISSN
0340-6717

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✦ Synopsis

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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