Evidence for inheritance in patients with VACTERL association

Benjamin D. Solomon; Daniel E. Pineda-Alvarez; Manu S. Raam; Derek A T Cummings

doi:10.1007/s00439-010-0814-7

Evidence for inheritance in patients with VACTERL association

Benjamin D. Solomon, Daniel E. Pineda-Alvarez, Manu S. Raam, Derek A T Cummings

Bloomberg School of Public Health

Research output: Contribution to journal › Article › peer-review

56 Scopus citations

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.

Original language	English (US)
Pages (from-to)	731-733
Number of pages	3
Journal	Human Genetics
Volume	127
Issue number	6
DOIs	https://doi.org/10.1007/s00439-010-0814-7
State	Published - Jun 2010

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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title = "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.",

author = "Solomon, {Benjamin D.} and Pineda-Alvarez, {Daniel E.} and Raam, {Manu S.} and Cummings, {Derek A T}",

year = "2010",

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T1 - Evidence for inheritance in patients with VACTERL association

AU - Solomon, Benjamin D.

AU - Pineda-Alvarez, Daniel E.

AU - Raam, Manu S.

AU - Cummings, Derek A T

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Y1 - 2010/6

N2 - 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.

AB - 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.

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JO - Human Genetics

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Evidence for inheritance in patients with VACTERL association

Abstract

ASJC Scopus subject areas

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