Paternal trisomy 21 mosaicism and Down's anomaly

descriptionPublicationkeyboard_double_arrow_right Article 01 Dec 1973 English Publisher:Springer Science and Business Media LLCJournal:Humangenetik, volume 17, pages 297-300 (issn: 0018-7348,

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Authors: K, Méhes;

doi: 10.1007/bf00273183

pmid: 4266542

Paternal trisomy 21 mosaicism and Down's anomaly

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Abstract

A family is described in which the 1-year-old boy had clinical Down's syndrome with regular trisomy 21 in the karyotype. The mother was healthy, was aged 22 years at the birth of her son, and had a normal 46,XX karyotype. The father (23) was phenotypically also normal, but proved to be a mosaic for trisomy 21. Four of the 60 of his cells examined contained the 47,XY,21+ chromosome set.

Keywords

Adult, Male, Mosaicism, Infant, Genetic Counseling, Trisomy, Pedigree, Karyotyping, Chromosomes, Human, 21-22 and Y, Humans, Female, Lymphocytes, Down Syndrome

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