Trisomy 22 mosaicism limited to skin fibroblasts in a mentally retarded, dysmorphic girl.
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.
Lund
H T
HT
Department of Paediatrics, Randers Central Hospital, Denmark.
Tranebjaerg
L
L
D000015:Abnormalities, Multiple / Q000235:genetics*; D002478:Cells, Cultured; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D009030:Mosaicism / Q000235:genetics*; D014314:Trisomy