Partial monosomy 10p syndrome.
A 7 year-old girl is described with a de novo deletion of the short arm of chromosome 10 (qter p13:). The clinical features of: mental retardation, a large asymmetric head, antimongoloid slant, exophthalmos, epicanthus, ptosis, abnormal ears, pectus excavatum and widely spaced nipples are compared with those of five earlier reported cases with a deletion 10p. The data available suggest the existence of a clinically recognizable monosomy 10p syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D013577:Syndrome