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

Article

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

Annales de genetique - 1 Jan 1993

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

Abstract excerpt

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 malformatio...

Topics

Abnormalities, Multiple
Chromosome Deletion
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 7
Dandy-Walker Syndrome
Humans
Infant, Newborn
Karyotyping
Male
Multigene Family
Phenotype
Translocation, Genetic

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