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11号染色体长臂部分缺失:一种新综合征。

Chromosome 11 long arm partial deletion: a new syndrome.

作者信息

Engel E, Hirshberg C S, Cassidy S B, McGee B J

出版信息

Am J Ment Defic. 1976 Jan;80(4):473-5.

PMID:1247044
Abstract

Deletion of the distal end of the long arm of a chromosome 11 (11q-) was demonstrated by G-bands in a malformed 4.3-year-old girl. Comparison of her phenotype with those of the four previously reported cases of 11q-, three with a proven and one a presumed similar deletion, suggests that this defect results in a clinical picture most noticeable for the association of variable mental retardation, marked speech deficit, trigonocephaly, and pronounced growth failure.

摘要

在一名4.3岁畸形女童中,通过G显带证实了11号染色体长臂远端缺失(11q-)。将她的表型与之前报道的4例11q-病例(3例已证实、1例推测为类似缺失)进行比较,结果表明,这种缺陷导致的临床症状最明显的是不同程度的智力发育迟缓、明显的语言缺陷、三角头畸形和显著的生长发育迟缓。

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