Monteleone P L, Chen S C, Nouri-Moghaddam S, Blair J D, Tietjens M
Am J Med Genet. 1982 Nov;13(3):299-304. doi: 10.1002/ajmg.1320130312.
We report sporadic occurrence of deletion of the long arm of chromosome 11 (q23 leads to qter) in a male newborn infant with intrauterine growth retardation, craniofacial, cardiac, and orthopedic abnormalities and neonatal death but without genital abnormalities. This deletion is seen predominantly in females; here we emphasize the importance of an XX sex chromosome constitution as a factor determining phenotypic expression of and survival in the del(11q) syndrome. We also provide a description of the cardiovascular system from postmortem examination. The cardiac findings are similar to those of two previously autopsied cases and will assist in early clinical diagnosis of the 11q-syndrome.
我们报告了1例患有宫内生长迟缓、颅面、心脏和骨科异常以及新生儿死亡但无生殖器异常的男性新生儿，其出现散发性11号染色体长臂缺失（q23至qter）。这种缺失主要见于女性；在此我们强调XX性染色体组成作为决定del(11q)综合征表型表达和生存的一个因素的重要性。我们还提供了尸检时对心血管系统的描述。心脏检查结果与之前两例尸检病例相似，将有助于11q综合征的早期临床诊断。
