Double-outlet right ventricle with absent left ventricle and mitral atresia in a fetus with a deletion 22q12

Prenatal Diagnosis
Aurore L'herminé-CoulombGérard Tachdjian

Abstract

Interstitial deletions of chromosomal region 22q12 are rare. We report the prenatal diagnosis of a de novo interstitial deletion 22q12. The fetus was karyotyped because of a complex cardiac anomaly. Conventional and molecular cytogenetics showed a female karyotype with a de novo pericentric inversion of one chromosome 22 associated with a deletion of the chromosomal region 22q12 leading to a partial monosomy 22q12. At autopsy, the fetus showed double-outlet right ventricle (DORV) with absent left ventricle and mitral atresia. This observation suggests that one or several genes for the early looping step of heart development may reside in chromosomal region 22q12. Further studies are needed to identify these genes, and to search microdeletions of 22q12 region in patients with DORV.

Citations

Mar 24, 2012·Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine·Hongmei WuYanhai Wang
Jul 10, 2020·The International Journal of Cardiovascular Imaging·Mingming MaBowen Zhao
May 25, 2021·Cardiology in the Young·Balaganesh KarmegarajBalu Vaidyanathan
Apr 14, 2005·Prenatal Diagnosis

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