Congenital hand difference associated with 12q13.13 microdeletion

被引：0

作者：

Chu, Howard ^{[1
]}

Parsons, Daisy ^{[2
]}

Metcalfe, James ^{[1
]}

Armstrong, Alexander ^{[1
]}

机构：

[1] Univ Hosp Plymouth NHS Trust, Derriford Hosp, Dept Burns Plast & Reconstruct Surg, Derriford Rd, Plymouth PL6 8DH, Devon, England

[2] Royal Devon Univ Healthcare NHS Fdn Trust, Royal Devon & Exeter Hosp Wonford, Dept Burns Plast & Reconstruct Surg, Exeter, Devon, England

来源：

JOURNAL OF HAND SURGERY-EUROPEAN VOLUME | 2025年 / 50卷 / 01期

关键词：

Child; hand deformities; congenital; chromosome disorders; chromosome aberrations; HOXC GENE-CLUSTER;

D O I：

10.1177/17531934241253479

中图分类号：

R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学（修复外科学）];

学科分类号：

摘要：

We report the case of a 15-year-old boy with a de novo chromosomal deletion in the 12q13.13 region, presenting with congenital hand difference. This case emphasizes the clinical significance of recognizing such genetic anomalies and their implications.

引用

页码：124 / 126

页数：3

共 4 条

[1] Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes
Hancarova, Miroslava
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Hu, Jie
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[J]. MOLECULAR CYTOGENETICS, 2017, 10
[3] A de novo 1.13 Mb microdeletion in 12q13.13 associated with congenital distal arthrogryposis, intellectual disability and mild dysmorphism
Jonsson, Dagur Ingi
Ludvigsson, Petur
Aradhya, Swaroop
Sigurdardottir, Sunna
Steinarsdottir, Margret
Hauksdottir, Helga
Jonsson, Jon Johannes
[J]. EUROPEAN JOURNAL OF MEDICAL GENETICS, 2012, 55 (6-7) : 437 - 440
[4] Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay
Okamoto, Nobuhiko
Tamura, Daisuke
Nishimura, Gen
Shimojima, Keiko
Yamamoto, Toshiyuki
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (12) : 2997 - 3001

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