Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism

descriptionPublicationkeyboard_double_arrow_right Article 01 Dec 1994 English Publisher:Springer Science and Business Media LLCJournal:Archives of Gynecology and Obstetrics, volume 255, pages 213-216 (issn: 0932-0067, eissn: 1432-0711,

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Authors: L H, Tseng; S M, Chuang; T Y, Lee; T M, Ko;

doi: 10.1007/bf02335088 , 10.1007/s004040050055

pmid: 7695369

Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism

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Abstract

A family with three children who had Down's syndrome and one healthy child is reported. Cytogenetic studies of the peripheral blood revealed trisomy 21 in the affected children, and normal karyotypes in both the parents and the healthy child. However, a biopsy of the mother's right ovary showed a mosaic trisomy 21 cell line (8/20 cells). By DNA polymorphism analysis, segregation of trisomy oogonia appeared to be the cause of recurrent trisomy 21.

Related Organizations

National Taiwan University of Arts
Taiwan

Keywords

Adult, Oogonia, Polymorphism, Genetic, Mosaicism, Ovary, Humans, Female, Down Syndrome

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