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Interstitial deletion of chromosome 2q associated with ovarian dysgenesis.

作者信息

Davis E, Grafe M, Cunniff C, Jones K L, Bogart M

机构信息

Department of Pathology, University of California, San Diego.

出版信息

Clin Genet. 1991 May;39(5):386-90. doi: 10.1111/j.1399-0004.1991.tb03047.x.

Abstract

In the present report we describe a girl with mental retardation, Dandy-Walker malformation, craniofacial anomalies, cardiac defect, and ovarian dysgenesis associated with an interstitial deletion of chromosome 2. The interstitial deletion in the proband was associated with an apparently balanced translocation involving chromosomes 2 and 7 in the father.

摘要

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