title: Prenatal diagnosis of tetralogy of Fallot associated with chromosome 22q11 deletion.
abstract: Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. We report our experiences on prenatal diagnosis by fluorescence in situ hybridization (FISH) for 22q11 deletion in two fetuses with tetralogy of Fallot. Karyotyping and FISH of the parents revealed that one fetus inherited the disease from maternal microdeletion. These findings suggest the importance of performing FISH in pregnancies with prenatally detected tetralogy of Fallot.
authors.affiliation: Department of Obstetrics, Samsung Cheil Hospital Women's Healthcare Center, Sungkyunkwan University School of Medicine, 1-19 Mookjeung-dong, Choong-gu, Seoul 100-380, Korea.
authors.forename: Dong Chul
authors.initials: DC
authors.lastname: Oh
authors.forename: Jee Yeon
authors.initials: JY
authors.lastname: Min
authors.forename: Moon Hee
authors.initials: MH
authors.lastname: Lee
authors.forename: Young Mi
authors.initials: YM
authors.lastname: Kim
authors.forename: So Yeon
authors.initials: SY
authors.lastname: Park
authors.forename: Hea Sung
authors.initials: HS
authors.lastname: Won
authors.forename: In Kyu
authors.initials: IK
authors.lastname: Kim
authors.forename: Young Ho
authors.initials: YH
authors.lastname: Lee
authors.forename: Shi Joon
authors.initials: SJ
authors.lastname: Yoo
authors.forename: Hyun Mee
authors.initials: HM
authors.lastname: Ryu
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D004452:Echocardiography; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D013771:Tetralogy of Fallot / Q000175:diagnosis* / Q000235:genetics