title: Double-outlet right ventricle with absent left ventricle and mitral atresia in a fetus with a deletion 22q12.
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.
authors.affiliation: Service d'Anatomie Pathologique, AP-HP, Hôpital Antoine Béclère, Clamart, France. aurore.coulomb@abc.ap-hop-paris.fr
authors.forename: Aurore
authors.initials: A
authors.lastname: L'herminé-Coulomb
authors.forename: Lucille
authors.initials: L
authors.lastname: Houyel
authors.forename: Azzedine
authors.initials: A
authors.lastname: Aboura
authors.forename: François
authors.initials: F
authors.lastname: Audibert
authors.forename: Dorothée
authors.initials: D
authors.lastname: Dal Soglio
authors.forename: Gérard
authors.initials: G
authors.lastname: Tachdjian
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006352:Heart Ventricles / Q000002:abnormalities* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008943:Mitral Valve / Q000002:abnormalities* / Q000473:pathology; D011247:Pregnancy; D011296:Prenatal Diagnosis