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两例7号染色体长臂存在不同缺失情况的病例。

Two cases with different deletions of the long arm of chromosome 7.

作者信息

Klep-de Pater J M, Bijlsma J B, Bleeker-Wagemakers E M, de France H F, de Vries-Ekkers C M

出版信息

J Med Genet. 1979 Apr;16(2):151-4. doi: 10.1136/jmg.16.2.151.

Abstract

Two mentally and physically retarded girls, one with an interstitial deletion 7 (pter leads to q21::q32 leads to qter), and the other with an interstitial deletion 7 (pter leads to q11::q22 leads to qter), are described. Their clinical features are compared with those of 11 earlier reported cases with a deletion 7q. The Hageman factor, the locus of which is assigned to the distal part of 7q, was in both cases within normal limits. The data available do not justify the delineation of a specific clinical syndrome.

摘要

本文描述了两名智力和身体发育迟缓的女孩,其中一名患有7号染色体间质性缺失(从染色体短臂末端到q21::q32到染色体长臂末端),另一名患有7号染色体间质性缺失(从染色体短臂末端到q11::q22到染色体长臂末端)。将她们的临床特征与之前报道的11例7q缺失病例进行了比较。凝血因子Ⅻ的基因座定位于7q的远端,在这两个病例中其水平均在正常范围内。现有数据不足以明确界定一种特定的临床综合征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c34/1012742/195d0847a4a0/jmedgene00291-0068-a.jpg

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