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Article

Distal 13q Deletion Syndrome and the VACTERL Association: Case report, literature review, and possible implications

1 Jan 2001

Abstract excerpt

We present a case of a child with del(13) (q31.1qter), VACTERL association, and penoscrotal transposition. Deletion of the distal long arm of chromosome 13 is associated with variable phenotypes. These phenotypes are divided into three clusters; each cluster represents a specific deleted segment of 13q. Individuals with deletions of a critical region at 13q32 have multiple congenital malformations that include...

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PMID: 11223849
DOI: 10.1002/1096-8628(20010115)98:2<137::aid-ajmg1022>3.0.co;2-5

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