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：
Jundao Wang
Tianli Zhao
Zhiping Tan
Xueyang Gong
Luyao Yiliya Ahemaiti
Shijun Wei
机构：
[1] The Second Xiangya Hospital of Central South University,Department of Cardiovascular Surgery
[2] Central South University,Department of Pediatrics
[3] The Second Xiangya Hospital of Central South University,undefined
[4] Central South University,undefined
来源：
Journal of Genetics | / 101卷
关键词：
Jacobsen syndrome; cleft lip and palate; congenital heart disease; copy number variation; 11q24 deletion.;
D O I：
暂无
中图分类号：
学科分类号：
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
收藏
相关论文
共 139 条
  • [1] Akshoomoff N(2015)Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q Genet. Med. 17 143-148
  • [2] Mattson SN(2020)Chromoanasynthesis as a cause of Jacobsen syndrome Am. J. Med. Genet. Part A 182 2533-2539
  • [3] Grossfeld PD(2019)11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: role of FLI1, ETS1, and SENCR long noncoding RNA Am. J. Med. Genet. Part A 179 993-1000
  • [4] Anzick S(1986)Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1 Clin. Genet. 30 255-260
  • [5] Thurm A(2004)The 11q terminal deletion disorder: a prospective study of 110 cases Am. J. Med. Genet. A 129A 51-61
  • [6] Burkett S(2012)Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome Am. J. Med. Genet. Part A 158A 2551-2556
  • [7] Velez D(1973)An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study Hum. Hered. 23 568-585
  • [8] Cho E(2015)11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures Am. J. Med. Genet. Part A 167A 3019-3030
  • [9] Chlebowski C(2009)Jacobsen Syndrome Orphanet. J. Rare Dis. 4 9-8734
  • [10] Conrad S(2002)Grit, a GTPase-activating protein for the Rho family, regulates neurite extension through association with the TrkA receptor and N-Shc and CrkL/Crk adapter molecules Mol. Cell. Biol. 22 8721-336
12345678910