同一家族中的强直性肌营养不良、脊髓空洞症和2/13易位
Myotonic dystrophy, syringomyelia, and 2/13 translocation in the same family.
作者信息
Levisky R B, Vianna-Morgante A M, Frota-Pessoa O, Scaff M, Tsanaclis A M, Levy J A
出版信息
J Med Genet. 1977 Feb;14(1):51-3. doi: 10.1136/jmg.14.1.51.
Abstract
The present report describes a sibship with 2 individuals affected by myotonic dystrophy and a third with syringomyelia. The mother was affected by myotonic dystrophy. A balanced 2/13 translocation was detected in the individual with syringomyelia, in one affected by myotonic dystrophy and in their clinically normal father. The association between the phenotypic anomalies and the chromosome alteration is coincidental.
摘要
本报告描述了一个家系，其中有2名个体患有强直性肌营养不良，第三名个体患有脊髓空洞症。母亲患有强直性肌营养不良。在患有脊髓空洞症的个体、一名患有强直性肌营养不良的个体及其临床正常的父亲中检测到平衡的2/13易位。表型异常与染色体改变之间的关联是巧合。
Zotero 插件