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Case Reports
. 1993;36(4):217-20.

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

J P Park  1 , M K McDermet, J B Moeschler, D H Wurster-Hill
Affiliations
  • PMID: 8166428
Case Reports

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

J P Park et al. Ann Genet. 1993.

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.

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