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Evidence for inheritance in patients with VACTERL association.

ABSTRACT: VACTERL/VATER association is typically a sporadic disorder. We present data on inheritance in 78 probands with VACTERL association, and show that 9% of probands have a primary relative with at least one component feature of VACTERL association. The prevalence of component features in first-degree relatives is significantly higher than expected in the general population, which has implications for counseling of affected families and for research into possible etiologies.

SUBMITTER: Solomon BD 

PROVIDER: S-EPMC2871973 | biostudies-other | 2010 Jun

REPOSITORIES: biostudies-other

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Evidence for inheritance in patients with VACTERL association.

Solomon Benjamin D BD   Pineda-Alvarez Daniel E DE   Raam Manu S MS   Cummings Derek A T DA  

Human genetics 20100406 6

VACTERL/VATER association is typically a sporadic disorder. We present data on inheritance in 78 probands with VACTERL association, and show that 9% of probands have a primary relative with at least one component feature of VACTERL association. The prevalence of component features in first-degree relatives is significantly higher than expected in the general population, which has implications for counseling of affected families and for research into possible etiologies. ...[more]