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伴有15/15易位的普拉德-威利综合征。病例报告及文献复习

The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature.

作者信息

Hawkey C J, Smithies A

出版信息

J Med Genet. 1976 Apr;13(2):152-7. doi: 10.1136/jmg.13.2.152.

Abstract

A case, diagnosed clinically as the Prader-Willi syndrome, was shown by Giemsa banding, to have a 15/15 chromosome translocation. A review of the literature indicates that such a translocation has only been described once before, in a normal woman, but that chromosme abnormalities in the Prader-Willi syndrome most commonly involve the D group. The significance of this would be clarified by specific chromosome identification in these patients.

摘要

一例临床上诊断为普拉德-威利综合征的病例,经吉姆萨显带显示有15/15染色体易位。文献回顾表明,这种易位此前仅在一名正常女性中被描述过一次,但普拉德-威利综合征中的染色体异常最常涉及D组。通过对这些患者进行特定染色体鉴定,这一情况的意义将得以阐明。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed8b/1013377/b2d005a39406/jmedgene00309-0073-a.jpg

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