Chromosome r(3)(p25.3q29) in a Patient with Developmental Delay and Congenital Heart Defects: A Case Report and a Brief Literature Review

被引：2

作者：

Zhang, Kaihui ^{[1
]}

Song, Fengling ^{[2
]}

Zhang, Dongdong ^{[2
]}

Liu, Yong ^{[3
]}

Zhang, Haiyan ^{[1
]}

Wang, Ying ^{[1
]}

Dong, Rui ^{[1
]}

Zhang, Yufeng ^{[1
]}

Liu, Yi ^{[1
]}

Gai, Zhongtao ^{[1
,2
]}

机构：

[1] Shandong Univ, Qilu Childrens Hosp, Pediat Res Inst, 23976 Jingshi Rd, Jinan 250022, Peoples R China

[2] Shandong Univ, Qilu Childrens Hosp, Pediat Hlth Care Inst, Jinan 250022, Peoples R China

[3] Shandong Univ, Qilu Childrens Hosp, Equipment Dept, Jinan 250022, Peoples R China

来源：

CYTOGENETIC AND GENOME RESEARCH | 2016年 / 148卷 / 01期

关键词：

3p deletion; Chromosome microarray; Ring chromosome; 3P DELETION SYNDROME; OF-THE-LITERATURE; ATRIOVENTRICULAR SEPTAL-DEFECTS; INTELLECTUAL DISABILITY; RING CHROMOSOME-3; MISSENSE MUTATIONS; CLINICAL CHARACTERIZATION; MENTAL-RETARDATION; GENE; PHENOTYPE;

D O I：

10.1159/000445273

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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 similar to 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. (C) 2016 S. Karger AG, Basel.

引用

页码：6 / 13

页数：8

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