A DELETION IN CHROMOSOME-22 CAN CAUSE DIGEORGE SYNDROME
A DELETION IN CHROMOSOME-22 CAN CAUSE DIGEORGE SYNDROME
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DOI：
10.1007/bf00278938
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发表时间：
1981-01-01
期刊：
影响因子：
5.3
通讯作者：
AULA, P
中科院分区：
文献类型：
--
作者：
DELACHAPELLE, A;HERVA, R;AULA, P
在一个家族的4个个体中发现了DiGeorge综合征与导致20pter→20q11三体和22pter→22q11单体的不平衡染色体重排之间的关联。这些和其他来自文献的数据被解释为表明DiGeorge综合征可能是由位于22号染色体上的基因缺失引起的，可能在22q11带中。
An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement leading to trisomy 20pter→20q11 and monosomy 22pter→22q11 was found in four individuals belonging to one family. These and other data from the literature are interpreted to suggest that DiGeorge's syndrome can be caused by deletion of a gene located in chromosome 22, probably in band 22q11.