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A case of de novo translocation 7; 10 and the duplication 7p, deletion 10p phenotype.

作者信息

Park J P, McDermet M K, Moeschler J B, Wurster-Hill D H

机构信息

Department of Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, N. H. 03756.

出版信息

Ann Genet. 1993;36(4):217-20.

PMID:8166428
Abstract

A patient with a de novo duplication of 7pter-->7p12 and deletion of distal 10p resulting from an unbalanced translocation is described. The patient's phenotype demonstrates features associated with other reported cases with similar imbalances which include hypertelorism, Dandy-Walker malformations, ventricular septal defect, bilateral cleft lip and palate, abnormal hand positions and clubbed feet, hypospadias, and imperforate anus.

摘要

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