Klep-de Pater J M, Bijlsma J B, Alkema F M
Eur J Pediatr. 1981 Oct;137(2):243-6. doi: 10.1007/BF00441326.
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.
一名7岁女孩被发现有10号染色体短臂（qter p13:）的新发缺失。将其智力发育迟缓、头部不对称增大、内眦赘皮反向、眼球突出、内眦赘皮、上睑下垂、耳部异常、漏斗胸和乳头间距增宽等临床特征与之前报道的5例10p缺失病例的特征进行了比较。现有数据表明存在一种临床上可识别的10p单体综合征。
