Trisomy 22 Mosaicism Limited to Skin Fibroblasts in a Mentally Retarded, Dysmorphic Girl
- 1 June 1990
- journal article
- case report
- Published by Wiley in Acta Paediatrica
- Vol. 79 (6-7) , 714-718
- https://doi.org/10.1111/j.1651-2227.1990.tb11543.x
Abstract
Less than 10 cases of trisomy 22 mosaicism have been reported. The patients have clinical features in common with both Down's and Turner's syndromes. We report on a 12-year-old girl, in whom the GFR-stimulated gonadotropine response suggested ovarian dysgenesis, although ovarian structures could be demonstrated by ultrasound. The diagnosis of trisomy 22 mosaicism was established by chromosome analysis of cultured skin fibroblasts following a negative lymphocyte culture.Keywords
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