2号染色体长臂3区1带至3区3带的间质性缺失
Interstitial deletion 2q31 leads to q33.
作者信息
Buchanan P D, Rhodes R L, Stevenson C E
出版信息
Am J Med Genet. 1983 May;15(1):121-6. doi: 10.1002/ajmg.1320150116.
PMID:6683075
Abstract
We present an 8-month-old female with severe retardation of growth and development, multiple congenital anomalies, and an interstitial deletion del(2)(q31 leads to q33) including results of cytogenetic and gene marker studies. The manifestations of this infant are compared with those of four other known patients with a partial del(2q).
摘要
我们报告一名8个月大的女性患儿，其生长发育严重迟缓，伴有多种先天性畸形，以及一个2号染色体q31至q33的间质性缺失del(2)(q31→q33)，包括细胞遗传学和基因标记研究结果。将该婴儿的表现与其他四名已知的部分2号染色体长臂缺失（del(2q)）患者的表现进行了比较。
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