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Article

Apparent transmission distortion of a pericentric chromosome one inversion in a large multi‐generation pedigree

11 May 2012

Abstract excerpt

Pericentric chromosome inversions are often associated with infertility, recurrent pregnancy loss, and an increased risk for offspring with congenital anomalies. We report on a chromosome 1 inversion between 1p36.21 and 1q42.13, one of the largest described familial pericentric inversions of chromosome 1. The inversion was ascertained following the birth of a female with multiple congenital anomalies due to a...

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PMID: 22581752
DOI: 10.1002/ajmg.a.35286

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