Ring chromosome 10 associated with multiple congenital malformations.
A 46,XY,r(10) karyotype was found in lymphocytes and skin fibroblasts cultured from a 8-month-old male showing multiple malformations and severe mental retardation. A comparison of the clinical features observed in cases in which a 10 ring was identified by means of banding techniques has been also attempted.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002478:Cells, Cultured; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008214:Lymphocytes; D008297:Male; D012867:Skin