1号染色体长臂间质缺失：46，XY，del(1)(pter导致q22::q25导致qter) 。
Interstitial deletion in the long arms of chromosome 1: 46,XY,del(1)(pter leads to q22::q25 leads to qter).
作者信息
de Pablo C E, García Sagredo J M, Ferro M T, Ferrando P, San Román C
出版信息
J Med Genet. 1980 Dec;17(6):483-6. doi: 10.1136/jmg.17.6.483.
Abstract
A child was brought to us with multiple anomalies. On examination we found an interstitial deletion in the long arms of chromosome 1. We studied genetic and chromosome markers, comparing our clinical and cytogenetic findings with other reported cases of chromosome 1 interstitial deletion.
摘要
一名患有多种异常的儿童被送到我们这里。经检查，我们发现其1号染色体长臂存在间质缺失。我们研究了遗传和染色体标记，将我们的临床和细胞遗传学发现与其他已报道的1号染色体间质缺失病例进行了比较。
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