Partial trisomy 10p in two generations.
Two cases of partial 10p trisomy due to a t(10;20)(p12;p12) in two generations of a family are presented. Analysis of 20 known cases of such aberrations confirmed the opinion of Schleiermacher et al. (1974) that partial trisomy 10p is a distinct clinically recognizable entity. The most important diagnostic features of this syndrome are dolichocephaly, prominent forehead, wide open sutures and fontanelles, broad root of the nose, cleft lip and palate, clubfoot, and cystic changes in kidneys.
D000328:Adult; D002906:Chromosomes, Human, 6-12 and X; D002971:Cleft Lip / Q000209:etiology; D002972:Cleft Palate / Q000209:etiology; D003025:Clubfoot / Q000209:etiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000209:etiology; D012886:Skull / Q000002:abnormalities; D014314:Trisomy