Deletion of 11q24.2-qter in a male child with cleft lip and palate: an atypical feature of Jacobsen syndrome

被引：0

作者：

Wang, Jundao ^{[1
]}

Zhao, Tianli ^{[1
]}

Tan, Zhiping ^{[2
]}

Gong, Xueyang ^{[1
]}

Ahemaiti, Yiliya ^{[1
]}

Wei, Luyao ^{[1
]}

Hu, Shijun ^{[1
]}

机构：

[1] Cent South Univ, Xiangya Hosp 2, Dept Cardiovasc Surg, Changsha 410011, Peoples R China

[2] Cent South Univ, Xiangya Hosp 2, Dept Pediat, Changsha 410011, Hunan, Peoples R China

来源：

JOURNAL OF GENETICS | 2022年 / 101卷 / 02期

基金：

中国国家自然科学基金;

关键词：

Jacobsen syndrome; cleft lip and palate; congenital heart disease; copy number variation; 11q24; deletion; MATRIX METALLOPROTEINASES; INTERSTITIAL DELETION; LONG ARM; ETS-1; GENE; ASSOCIATION;

D O I：

10.1007/s12041-022-01380-z

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Jacobsen syndrome (JS) is caused by the terminal deletion at the long arm of chromosome 11. It is characterized by growth retardation, intellectual disability, facial dysmorphism, and other congenital abnormalities. The subband 11q24.1 has been confirmed to be the critical region for the typical features of JS. The patient in the current study is a 2-year-old male child with prominent craniofacial abnormalities and congenital heart disease. High-resolution single-nucleotide polymorphism arrays revealed breakage in chromosome 11q beginning at 11q24.2, with complete deletion of the distal portion. We collected all available reports describing patients with breakages at 11q24.1 or 11q24.2, and compared it with the typical features of JS. We found that the phenotype of cleft lip and palate (CLP) was present in both groups of patients with no overlap region in the deletion region (between 11q21-q23 and 11q24.2-qter), which indicated that other genes may be related to CLP in JS.

引用

页数：6

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