title: Chromosome r(3)(p25.3q29) in a Patient with Developmental Delay and Congenital Heart Defects: A Case Report and a Brief Literature Review.
abstract: Ring chromosome 3, r(3), is an extremely rare cytogenetic abnormality with clinical heterogeneity and only 12 cases reported in the literature. Here, we report a 1-year-old girl presenting distinctive facial features, developmental delay, and congenital heart defects with r(3) and a ∼10-Mb deletion of chromosome 3pterp25.3 (61,891-9,979,408) involving 42 known genes which was detected using G-banding karyotyping and CytoScan 750K-Array. The breakpoints in r(3) were mapped at 3p25.3 and 3q29. We also analyzed the available information on the clinical features of the reported cases with r(3) and 3p deletion syndrome in order to provide more valuable information of genotype-phenotype correlations. To our knowledge, this is the largest detected fragment described in r(3) cases and the second r(3) study using whole-genome microarray.
authors.affiliation: Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, China.
authors.forename: Kaihui
authors.initials: K
authors.lastname: Zhang
authors.forename: Fengling
authors.initials: F
authors.lastname: Song
authors.forename: Dongdong
authors.initials: D
authors.lastname: Zhang
authors.forename: Yong
authors.initials: Y
authors.lastname: Liu
authors.forename: Haiyan
authors.initials: H
authors.lastname: Zhang
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.forename: Rui
authors.initials: R
authors.lastname: Dong
authors.forename: Yufeng
authors.initials: Y
authors.lastname: Zhang
authors.forename: Yi
authors.initials: Y
authors.lastname: Liu
authors.forename: Zhongtao
authors.initials: Z
authors.lastname: Gai
mesh_terms: D002871:Chromosome Banding; D056905:Chromosome Breakpoints; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D059785:Karyotype; D008297:Male; D010375:Pedigree; D012303:Ring Chromosomes