身体发育迟缓与环状染色体嵌合体相关：46, XX,r(10)/45, XX,10 缺失。
Physical retardation is associated with ring chromosome mosaicism: 46, XX,r(10)/45, XX,10 minus.
作者信息
Lansky S, Daniel W, Fleiszar K
出版信息
J Med Genet. 1977 Feb;14(1):61-3. doi: 10.1136/jmg.14.1.61.
Abstract
Cytogenetic analysis of peripheral leucocytes of a 9-year-old girl presenting with retardation of physical development indicated mosaicism for a ring 10 chromosome. Serum aspartate transaminase was within normal limits. A survey of eight markers failed to show syntenic relations with chromosome 10.
摘要
对一名身体发育迟缓的9岁女孩的外周血白细胞进行细胞遗传学分析，结果显示存在10号环状染色体的嵌合体。血清天冬氨酸转氨酶水平在正常范围内。对八个标记物的研究未能显示出与10号染色体的同线关系。
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