Skeletal anomalies in a patient with the Pallister/Teschler-Nicola/Killian syndrome.
We report on a 3-8/12-year-old boy with the Pallister/Teschler-Nicola/Killian syndrome and previously unreported bilateral skeletal anomalies consisting of small feet and short but otherwise normal humeri, ulnae, femora, and fibulae. His peripheral blood chromosomes were normal; however, 47,XY,+i(12p) was found in 100% of fibroblasts.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001842:Bone and Bones / Q000002:abnormalities*; D002478:Cells, Cultured; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12 / Q000648:ultrastructure*; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D008297:Male; D013577:Syndrome