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11例9p缺失新病例及80例病例的特征。

Eleven new cases of del(9p) and features from 80 cases.

作者信息

Huret J L, Leonard C, Forestier B, Rethoré M O, Lejeune J

机构信息

Cytogénétique Laboratoire d'Hématologie, CHU La Milétrie, Poitiers, France.

出版信息

J Med Genet. 1988 Nov;25(11):741-9. doi: 10.1136/jmg.25.11.741.

Abstract

We report 11 cases of del(9p) and review 69 previously published ones. Of the 80 cases, 39 have a del(9p) as the sole anomaly. The symptoms are typical and diagnosis should be suspected at birth. The sex ratio does not appear to be unbalanced. A cardiac murmur is often present but surgery is rarely necessary. Mean IQ is 48. The number of reported cases with an associated trisomy has previously been underestimated. Death in infancy, owing mainly to gross visceral malformations, occurs more often in cases of del(9p) with another unbalanced chromosome segment (16/41) than in cases of del(9p) as the sole anomaly (1/39).

摘要

我们报告了11例9号染色体短臂缺失(del(9p))的病例,并回顾了之前发表的69例病例。在这80例病例中,39例仅有del(9p)这一异常情况。其症状典型,出生时就应怀疑诊断。性别比例似乎并无失衡。常伴有心脏杂音,但很少需要手术治疗。平均智商为48。之前伴有三体综合征的报告病例数量被低估了。主要由于严重内脏畸形导致的婴儿期死亡,在伴有另一个染色体不平衡片段的del(9p)病例(16/41)中比仅为del(9p)异常的病例(1/39)中更常见。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e71e/1051577/6c07e16c5743/jmedgene00073-0023-a.jpg

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