染色体内插入引起的重复10q22.1-q25.1:第二例。

Annales de genetique Pub Date : 1998-01-01

P W Goss, L Voullaire, R J Gardner

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引用次数: 0

摘要

这是第二次报道的片段10q22.1-q25.1的重复病例，第一次是在胎儿病例中。表型记录在一个12岁的女孩，谁是智力迟钝，有一个独特的面部畸形。

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Duplication 10q22.1-q25.1 due to intrachromosomal insertion: a second case.

This is the second reported case of duplication for the segment 10q22.1-q25.1, the first having been in a fetal case. The phenotype is documented in a 12 year old girl, who is mentally retarded and has a distinctive facial dysmorphology.

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Annales de genetique

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