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Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions.

作者信息

Slavotinek A, Kingston H

机构信息

Department of Clinical Genetics, St Mary's Hospital, Manchester, UK.

出版信息

J Med Genet. 1997 Oct;34(10):862-5. doi: 10.1136/jmg.34.10.862.

Abstract

We report a 6 year old child with a small de novo interstitial deletion of proximal 4q, karyotype 46,XX,del(4)(pter-->q12::q13.1-->qter). She has made good developmental progress and attends normal school with minimal assistance. We review published reports and clinical findings in patients with proximal 4q deletions.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ccc1/1051098/c5cfa6dbb1ee/jmedgene00252-0070-a.jpg

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