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与先天性巨结肠相关的13号染色体长臂远端间质缺失。

Interstitial deletion of distal 13q associated with Hirschsprung's disease.

作者信息

Lamont M A, Fitchett M, Dennis N R

机构信息

Department of Child Health, Southampton General Hospital.

出版信息

J Med Genet. 1989 Feb;26(2):100-4. doi: 10.1136/jmg.26.2.100.

DOI:10.1136/jmg.26.2.100
PMID:2918536
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1015558/
Abstract

Three cases of interstitial deletion of chromosome 13 involving the common segment 13q22.1----q32.1 are reported. In addition to the recognised clinical features of this deletion, two had Hirschsprung's disease.

摘要

报告了3例13号染色体间质缺失病例，缺失的共同片段为13q22.1----q32.1。除了这种缺失所公认的临床特征外，其中2例患有先天性巨结肠。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a4d/1015558/a9d2627b20db/jmedgene00052-0030-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a4d/1015558/dccde25bc62e/jmedgene00052-0029-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a4d/1015558/b40571caef78/jmedgene00052-0029-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a4d/1015558/7d5e6d64797e/jmedgene00052-0029-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a4d/1015558/ed9511ae021b/jmedgene00052-0029-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a4d/1015558/cbf35e90e56c/jmedgene00052-0030-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a4d/1015558/a9d2627b20db/jmedgene00052-0030-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a4d/1015558/dccde25bc62e/jmedgene00052-0029-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a4d/1015558/b40571caef78/jmedgene00052-0029-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a4d/1015558/7d5e6d64797e/jmedgene00052-0029-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a4d/1015558/ed9511ae021b/jmedgene00052-0029-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a4d/1015558/cbf35e90e56c/jmedgene00052-0030-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2a4d/1015558/a9d2627b20db/jmedgene00052-0030-b.jpg

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本文引用的文献

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Retinoblastoma, gross internal malformations, and deletion 13q14 leads to q31.视网膜母细胞瘤、严重的内部畸形以及13号染色体长臂14区至31区的缺失。
Hum Genet. 1981;56(3):283-6. doi: 10.1007/BF00274680.
2
The ring chromosome 13 syndrome.13号环状染色体综合征
Hum Genet. 1982;61(1):18-23. doi: 10.1007/BF00291324.
3
Interstitial deletion of long arm of chromosome 13.13号染色体长臂的间质缺失
预防患有先天性巨结肠症的新生大鼠幼崽早期死亡的手术方法，从而为长期治疗方法的开发提供可能。
Biol Methods Protoc. 2022 Jan 27;7(1):bpac004. doi: 10.1093/biomethods/bpac004. eCollection 2022.
4
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.大小很重要：先天性巨结肠症患者的大片段拷贝数缺失揭示了参与肠神经系统发育的基因。
PLoS Genet. 2021 Aug 6;17(8):e1009698. doi: 10.1371/journal.pgen.1009698. eCollection 2021 Aug.
5
A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the Gene.一名患有13q21.31q33.1间质性缺失（包括该基因）的新生儿罕见地同时出现肠旋转不良和先天性巨结肠病。
J Pediatr Genet. 2019 Sep;8(3):142-146. doi: 10.1055/s-0038-1677551. Epub 2019 Jan 14.
6
13q22.1-q32.1 Microdeletion Syndrome.13q22.1-q32.1微缺失综合征
Indian J Pediatr. 2019 Mar;86(3):303-305. doi: 10.1007/s12098-018-2789-7. Epub 2018 Nov 7.
7
Familiar hypopigmentation syndrome in sheep associated with homozygous deletion of the entire endothelin type-B receptor gene.绵羊中与内皮素 B 型受体基因完全缺失纯合子相关的熟悉的色素减退综合征。
PLoS One. 2012;7(12):e53020. doi: 10.1371/journal.pone.0053020. Epub 2012 Dec 31.
8
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Pediatr Surg Int. 2012 Nov;28(11):1045-58. doi: 10.1007/s00383-012-3175-6. Epub 2012 Sep 23.
9
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Eur J Hum Genet. 2011 Sep;19(9):947-58. doi: 10.1038/ejhg.2011.58. Epub 2011 Apr 20.
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4
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