ISSN:
1432-0711
Keywords:
Key words: Trisomy 21
;
Mosaicism
;
DNA polymorphism analysis
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s004040050055
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