16号染色体长臂单体：一种独特的综合征。关于一例新发的del(16)(q21.00q23.00)。
Monosomy 16q: a distinct syndrome. Apropos of a de novo del(16) (q2100q2300).
作者信息
Rivera H, Vargas-Moyeda E, Möller M, Torres-Lamas A, Cantú J M
出版信息
Clin Genet. 1985 Jul;28(1):84-6. doi: 10.1111/j.1399-0004.1985.tb01223.x.
Abstract
A 2-month-old boy with delayed growth and development, brachycephaly, large anterior fontanelle, low-set folded ears, micrognathia, aortic coarctation, floppy abdominal muscles, and pes varus, was found to have a 46,XY,del(16)(q2100q2300) de novo karyotype. This observation corroborates both the distinctness of the 16q monosomy syndrome and the pathogenetic role of the band 16q21.
摘要
一名2个月大的男婴，伴有生长发育迟缓、短头畸形、前囟门大、低位折叠耳、小颌畸形、主动脉缩窄、腹部肌肉松弛和内翻足，其核型为46,XY,del(16)(q2100q2300)，属新发突变。这一观察结果证实了16q单体综合征的独特性以及16q21带的致病作用。
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