title: Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families.
abstract: The phenotypic variability associated with 22q11.2 deletion syndrome (22q11.2DS) is well known. In the present study, the cases of three unrelated adult patients with chromosome 22q11.2DS and nearly normal features are described, along with their reproductive histories. Chromosomal analysis with fluorescentin situhybridisation and genomic DNA analysis by microarrays were performed, as well as a clinical examination. The three patients were found to possess an identical breakpoint deletion at 22q11.2 by high-density whole-genome single nucleotide polymorphism microarray analysis. The patients had histories of two foetuses/infants with congenital heart defects. The underlying aetiology for the discordance in the phenotype in these patients is discussed. These observations provide additional data useful for patient counselling and guidelines for 22q11.2 clinical screening.
authors: Fetal Medicine Centre, Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong 510080, P.R. China.
authors: Linhuan
authors: L
authors: Huang
authors: Fetal Medicine Centre, Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong 510080, P.R. China.
authors: Yingjun
authors: Y
authors: Xie
authors: Fetal Medicine Centre, Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong 510080, P.R. China.
authors: Yi
authors: Y
authors: Zhou
authors: Fetal Medicine Centre, Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong 510080, P.R. China.
authors: Yanmin
authors: Y
authors: Luo
authors: Fetal Medicine Centre, Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong 510080, P.R. China.
authors: Xuan
authors: X
authors: Huang
authors: Division of Cardiac Surgery, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong 510080, P.R. China.
authors: Zhe
authors: Z
authors: Xu
authors: Department of Ultrasonic Medicine, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong 510080, P.R. China.
authors: Danlei
authors: D
authors: Cai
authors: Fetal Medicine Centre, Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong 510080, P.R. China.
authors: Qun
authors: Q
authors: Fang
keywords: 22q11.2 deletion syndrome; congenital heart disease; microarray; phenotypic variability; single nucleotide polymorphisms