Ayraud N, Galiana A, Llyod M, Deswarte M
Ann Genet. 1976 Mar;19(1):65-8.
A 4-year-old boy with partial trisomy 11q resulting from malsegregation of a maternal translocation, t(11;22)(q23.1;q11.1), exhibits the following malformations: severe mental deficiency; growth retardation and hypotonia; brachycephaly with flattened occiput and forehead; facial dysmorphia; pre-auricular fistula. These features are in good agreement with the syndrome recently described for partial trisomy 11q. The translocation appears to be identical in that in three other families already reported.
一名4岁男孩因母亲11号染色体长臂部分三体综合征(源自11号与22号染色体易位,核型为t(11;22)(q23.1;q11.1))而出现以下畸形:严重智力缺陷;生长发育迟缓及肌张力减退;短头畸形伴枕部及前额扁平;面部畸形;耳前瘘管。这些特征与最近描述的11号染色体长臂部分三体综合征相符。该易位与已报道的其他三个家系中的易位似乎相同。