title: Trisomy 22 mosaicism limited to skin fibroblasts in a mentally retarded, dysmorphic girl.
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.
authors.affiliation: Department of Paediatrics, Randers Central Hospital, Denmark.
authors.forename: H T
authors.initials: HT
authors.lastname: Lund
authors.forename: L
authors.initials: L
authors.lastname: Tranebjaerg
mesh_terms: 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