title: [Study on the relationship between 22q11 microdeletion and congenital heart disease].
abstract: To investigate if microdeletion of chromosome 22q11 is an epidemiologically important cause of congenital heart disease (CHD), we studied 25 cases with CHD phenotypes. Venous blood samples were tested by fluorescence in situ hybridization (FISH) for microdeletion of 22q11. Among 23 cases with simple CHD, 19 were shown not to have microdeletion of 22q11 and the other 4 cases were shown to have 22q11 microdeletion. Microdeletion of 22q11 was found in 2 cases with Tetralogy of Fallot (TOF) accompanied by multiple malformations. The results suggested that microdeletion of 22q11 was associated with CHD.
authors.affiliation: Laboratory of Medical Genetics, Harbin Medical University, Harbin 150086,China. yurongdu@yahoo.com.cn
authors.forename: Yu-Rong
authors.initials: YR
authors.lastname: Du
authors.forename: Huan-Jie
authors.initials: HJ
authors.lastname: Yang
authors.forename: Zhen
authors.initials: Z
authors.lastname: Tan
authors.forename: Yun
authors.initials: Y
authors.lastname: Huang
authors.forename: Shu-Lin
authors.initials: SL
authors.lastname: Li
authors.forename: Jia-Wei
authors.initials: JW
authors.lastname: Tian
authors.forename: Gui-Yin
authors.initials: GY
authors.lastname: Zhang
authors.forename: Pu
authors.initials: P
authors.lastname: Li
authors.forename: Song-Bin
authors.initials: SB
authors.lastname: Fu
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D013771:Tetralogy of Fallot / Q000235:genetics; D055815:Young Adult