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Free proximal trisomy 21 in the mother and malformation syndrome in the son

✍ Scribed by Shabtai, Fiorella S. ;Schwartz, Ariel ;Klar, Dvora ;Hart, Jacob ;Dar, Hanna ;Kessler, Elen ;Halbrecht, Lsaac

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 392 KB
Volume: 37
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320370736

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✦ Synopsis

We report on a new case of duplication of the proximal part of the long arm of chromosome 21. The proposita presents normal mental development, no trisomy 21 manifestations; on the contrary, she had a few monosomy 21-like stigmata. She gave birth to a severely malformed infant with a pattern of malformations suggesting a partial 21-monosomy syndrome, but with a 46,XY normal karyotype in his peripheral blood lymphocytes. The findings are explained in the following way: the infant probably had originally a 47,XY,+21q- karyotype like his mother. Post zygotic nondisjunctional events produced a prevalent 46,XY,21q- line responsible for the severe malformations and the normal 46,XY line found in his blood lymphocytes.

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