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由于父源性相互易位导致全前脑畸形的18p和21q部分单体性。

Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly.

作者信息

Wakabayashi Hiroko, Matsumoto Ayumi, Komori Sakiko, Goto Masahide, Tajima Toshihiro, Sasaki Aiko, Matsumura Takayoshi, Yamagata Takanori

机构信息

Division of Clinical Trial, Clinical Investigation Center, Jichi Medical University Hospital, Tochigi, Japan.

Division of Cardiovascular and Genetics Research, Center for Molecular Medicine, Jichi Medical University, Tochigi, Japan.

出版信息

Hum Genome Var. 2025 May 30;12(1):10. doi: 10.1038/s41439-025-00314-2.

DOI:10.1038/s41439-025-00314-2
PMID:40447572
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12125312/
Abstract

Here we report a patient with holoprosencephaly (HPE) associated with 45, XY,der(18)t(18;21)(p11.2;q21.3),-21 derived from a paternal balanced reciprocal translocation. Array comparative genomic hybridization analysis revealed 18p11.32-p11.21 and 21q11.2-q21.3 deletions. So far, nine cases of monosomy 18p with an unbalanced translocation (18;21) have been reported, four of which presented with HPE. Our case provides a detailed long-term clinical course and helps us to better understand these rare genetic events.

摘要

在此，我们报告一名患有全前脑畸形（HPE）的患者，其核型为45, XY, der(18)t(18;21)(p11.2;q21.3), -21，源自父亲的平衡易位。阵列比较基因组杂交分析显示18p11.32 - p11.21和21q11.2 - q21.3缺失。迄今为止，已报道9例18号染色体短臂单体合并不平衡易位（18;21）的病例，其中4例表现为全前脑畸形。我们的病例提供了详细的长期临床病程，有助于我们更好地理解这些罕见的遗传事件。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/536f/12125312/873169e3e612/41439_2025_314_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/536f/12125312/873169e3e612/41439_2025_314_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/536f/12125312/873169e3e612/41439_2025_314_Fig1_HTML.jpg

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本文引用的文献

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A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report.一名患有21q21.1微缺失的小男孩表现出语言发育迟缓、痉挛性双侧瘫和磁共振成像异常：原始病例报告。
Glob Med Genet. 2023 Aug 31;10(3):234-239. doi: 10.1055/s-0043-1774291. eCollection 2023 Sep.
2
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature.不同表型中部分21号染色体单体的剖析：5例临床和分子特征分析及文献综述
Mol Cytogenet. 2016 Feb 24;9(1):21. doi: 10.1186/s13039-016-0230-3. eCollection 2016.
3
Chromosome 18p deletion syndrome presenting holoprosencephaly and premaxillary agenesis: prenatal diagnosis and aCGH characterization using uncultured amniocytes.
18p 染色体缺失综合征合并无脑畸形和前颌骨发育不全：未培养羊水细胞的 aCGH 特征及产前诊断
Gene. 2013 Sep 25;527(2):636-41. doi: 10.1016/j.gene.2013.06.081. Epub 2013 Jul 11.
4
The molecular genetics of holoprosencephaly.无脑回畸形的分子遗传学。
Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):52-61. doi: 10.1002/ajmg.c.30236.
5
Detailed molecular and clinical characterization of three patients with 21q deletions.详细的分子和临床特征分析三例 21q 缺失患者。
Clin Genet. 2010 Feb;77(2):145-54. doi: 10.1111/j.1399-0004.2009.01289.x. Epub 2009 Oct 23.
6
Holoprosencephaly.前脑无裂畸形
Orphanet J Rare Dis. 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8.
7
TGIF, a gene associated with human brain defects, regulates neuronal development.TGIF是一种与人类大脑缺陷相关的基因，它调控神经元发育。
Dev Dyn. 2006 Jun;235(6):1482-90. doi: 10.1002/dvdy.20725.
8
Ethmocephaly caused by de novo translocation 18;21--prenatal diagnosis.新发18号与21号染色体易位所致筛骨脑畸形——产前诊断
Prenat Diagn. 2003 Oct;23(10):788-90. doi: 10.1002/pd.689.
9
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Genet Couns. 2002;13(2):151-6.
10
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