13号染色体臂间倒位的减数分裂后果
Meiotic consequences of pericentric inversions of chromosome 13.
作者信息
Wenger S L, Steele M W
出版信息
Am J Med Genet. 1981;9(4):275-83. doi: 10.1002/ajmg.1320090403.
PMID:7294066
Abstract
A case is presented demonstrating meiotic consequences of inheritance of a pericentric inversion, inv(13)(p13q21), and suggesting, together with other similar reports reviewed, that certain manifestations (highly arched palate, long philtrum, polydactyly, microphthalmia, and capillary hemangiomata) result from duplication of the distal 13q while others (cleft lip/palate, scalp defects, congenital heart disease) result from duplication of the proximal 13q.
摘要
本文报告了一例因遗传一个臂间倒位inv(13)(p13q21)而导致减数分裂后果的病例，并与其他综述的类似报告一起表明，某些表现（高拱腭、长人中、多指畸形、小眼症和毛细血管瘤）是由13q远端重复所致，而其他表现（唇腭裂、头皮缺损、先天性心脏病）则是由13q近端重复所致。
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