Trisomy 3 mosaicism in a live-born infant.
We report on the first case of trisomy 3 detected in the lymphocytes of a live-born infant who died at the age of 5 months. A normal 46,XX karyotype was found in skin fibroblast cultures, which could account for the child's viability and lack of gross phenotypic malformations.
D000015:Abnormalities, Multiple / Q000235:genetics; D002900:Chromosomes, Human, 1-3; D005260:Female; D005347:Fibroblasts / Q000032:analysis; D006801:Humans; D007223:Infant; D008214:Lymphocytes / Q000032:analysis; D009030:Mosaicism; D012867:Skin / Q000166:cytology; D014314:Trisomy