Chromosomal abnormalities among children born with conotruncal cardiac defects

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Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.

Congenital conotruncal cardiac defects occur with increased frequency in patients with DiGeorge syndrome (DGS). Previous studies have shown that the majority of patients with DGS or velocardiofacial syndrome (VCFS) have a microdeletion within chromosomal region 22q11. We hypothesised that patients with conotruncal defects who were not diagnosed with DGS or VCFS would also have 22q11 deletions. ...

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Risk factors for conotruncal cardiac defects in Atlanta.

Because the causes of conotruncal cardiac defects are poorly understood, a case-control study was conducted to investigate maternal risk factors for conotruncal cardiac defects. Eligible cases included all infants who were born from 1976 through 1980 to residents of the five county metropolitan Atlanta area and diagnosed with truncus arteriosus, transposition of the great arteries or tetralogy ...

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ژورنال

عنوان ژورنال: Birth Defects Research Part A: Clinical and Molecular Teratology

سال: 2009

ISSN: 1542-0752,1542-0760

DOI: 10.1002/bdra.20541