镶嵌型8号染色体短臂等臂染色体
Mosaic isochromosome 8p.
作者信息
Tilstra D J, Grove M, Spencer A C, Norwood T H, Pagon R A
机构信息
Department of Medicine, University of Washington School of Medicine, Seattle.
出版信息
Am J Med Genet. 1993 Jun 15;46(5):517-9. doi: 10.1002/ajmg.1320460511.
PMID:8322812
Abstract
Findings in a patient with mosaic isochromosome 8p are compared with those of previously reported cases. There were no distinguishing findings on physical examination; all had cognitive delays, especially in speech and language development.
摘要
将一名患有8号染色体短臂等臂染色体嵌合体患者的检查结果与先前报道的病例进行比较。体格检查未发现显著差异；所有患者均有认知延迟，尤其是在言语和语言发育方面。
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