[一名患矮妖精貌综合征女童的7号染色体长臂间质性缺失]
[Interstitial deletion of the long arm of chromosome 7 in a female child with leprechaunism].
作者信息
Ayraud N, Rovinski J, Lambert J C, Galiana A
出版信息
Ann Genet. 1976 Dec;19(4):265-8.
PMID:797303
Abstract
A case of interstitial deletion of the long arm of chromosome 7 with probable loss of segment 7q2 is reported in a infant with leprechaunism. This association suggests the possibility of a heterozygous deletion of the normal allele at the leprechaun locus.
摘要
报告了1例患有丑角样鱼鳞病的婴儿，其7号染色体长臂存在间质性缺失，可能缺失了7q2片段。这种关联提示了在丑角样鱼鳞病基因座上正常等位基因杂合性缺失的可能性。
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