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一名患有裂手畸形男孩的新发6号染色体长臂间质性缺失。

A de novo interstitial 6q deletion in a boy with a split hand malformation.

作者信息

Duran-Gonzalez Jorge, Gutierrez-Angulo Melva, Garcia-Cruz Diana, Ayala Maria de la Luz, Padilla Miguel, Davalos Ingrid P

机构信息

División de Genética, Instituto de Genética Humana Enrique Corona Rivera, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Sierra Mojada 800, Col. Independencia, Guadalajara, Jalisco, México.

出版信息

J Appl Genet. 2007;48(4):405-7. doi: 10.1007/BF03195240.

DOI:10.1007/BF03195240
PMID:17998600
Abstract

We report on a de novo interstitial deletion of (6)(q15q22.2) in a 5-year-old boy with developmental delay, microcephaly, facial dysmorphism, cryptorchidism, congenital heart defect, and split-hand malformation. Previous reports and this patient suggest that 6q21 may contain a gene or genes related either directly or indirectly to limb development.

摘要

我们报告了一名5岁男孩，其存在发育迟缓、小头畸形、面部畸形、隐睾症、先天性心脏缺陷和并指畸形，检测发现其6号染色体长臂（6）（q15q22.2）存在新发间质性缺失。既往报道及该患者提示，6q21可能包含一个或多个直接或间接与肢体发育相关的基因。

相似文献

1
A de novo interstitial 6q deletion in a boy with a split hand malformation.一名患有裂手畸形男孩的新发6号染色体长臂间质性缺失。
J Appl Genet. 2007;48(4):405-7. doi: 10.1007/BF03195240.
2
Interstitial deletion of 6q21-q23 associated with split hand.
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Interstitial deletion of the long arm of chromosome 6 associated with unusual limb anomalies: report of two new patients and review of the literature.与异常肢体畸形相关的6号染色体长臂间质缺失：两例新患者报告及文献复习
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Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3.一名患有7q21.3新发间质性缺失的男孩出现双侧裂手裂足畸形。
J Med Genet. 1991 Jul;28(7):479-81. doi: 10.1136/jmg.28.7.479.
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Deletion 7q21.2-q22.1 in a case with split hand-split foot malformation, sensorineural hearing loss and intellectual disability: Phenotype subtypes and the correlation with genotypes.一例患有并指（趾）畸形、感音神经性听力损失和智力残疾患者的7号染色体长臂2区1带2亚带到2区2带1亚带缺失：表型亚型及其与基因型的相关性
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Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia.与1型裂手/裂足畸形和Mondini发育异常相关的7q21.3缺失的细化。
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Case report: A new 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review.病例报告：一名患有小脑蚓部发育不全和发育迟缓的女孩中的一种新的6q21q22.1间质性缺失病例及文献综述。
Front Genet. 2024 Feb 6;14:1315291. doi: 10.3389/fgene.2023.1315291. eCollection 2023.
2
PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation.PRDM1 DNA 结合锌指结构域对于正常肢体发育是必需的，并且在分裂手/足畸形中被破坏。
Dis Model Mech. 2023 Apr 1;16(4). doi: 10.1242/dmm.049977. Epub 2023 Apr 21.
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Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia.

本文引用的文献

1
Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.6号染色体长臂间质性缺失：利用阵列比较基因组杂交技术进行基因型-表型相关性研究
Clin Genet. 2007 Mar;71(3):260-6. doi: 10.1111/j.1399-0004.2007.00757.x.
2
Pathogenesis of split-hand/split-foot malformation.裂手/裂足畸形的发病机制。
Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R51-60. doi: 10.1093/hmg/ddg090.
3
Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype.
伴有严重上肢发育不全缺陷和十二指肠闭锁的6q16.3微缺失综合征的罕见表现。
Clin Case Rep. 2017 Apr 26;5(6):905-914. doi: 10.1002/ccr3.916. eCollection 2017 Jun.
4
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.包括SIM1在内的6q16缺失的不完全外显率和表型变异性。
Eur J Hum Genet. 2015 Aug;23(8):1010-8. doi: 10.1038/ejhg.2014.230. Epub 2014 Nov 5.
5
Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.6q 染色体间区缺失的基因型-表型相关性：12 例新病例报告。
Neurogenetics. 2012 Feb;13(1):31-47. doi: 10.1007/s10048-011-0306-5. Epub 2012 Jan 5.
分选连接蛋白3（SNX3）在一名患有t(6;13)(q21;q12)易位且具有小头畸形、小眼畸形、缺指（趾）畸形、突颌（MMEP）表型的患者中出现功能紊乱。
J Med Genet. 2002 Dec;39(12):893-9. doi: 10.1136/jmg.39.12.893.
4
New insights into the phenotypes of 6q deletions.6q缺失表型的新见解。
Am J Med Genet. 1997 Jun 27;70(4):377-86.
5
Interstitial deletion of 6q21-q23 associated with split hand.
Am J Med Genet. 1997 Mar 31;69(3):268-70. doi: 10.1002/(sici)1096-8628(19970331)69:3<268::aid-ajmg10>3.0.co;2-p.
6
Deletion of the long arm of chromosome 6: two new patients and literature review.6号染色体长臂缺失：两例新病例及文献综述
Clin Genet. 1996 Sep;50(3):138-44. doi: 10.1111/j.1399-0004.1996.tb02368.x.
7
Interstitial deletion of the long arm of chromosome 6 associated with unusual limb anomalies: report of two new patients and review of the literature.与异常肢体畸形相关的6号染色体长臂间质缺失：两例新患者报告及文献复习
Am J Med Genet. 1995 Oct 23;59(1):38-43. doi: 10.1002/ajmg.1320590109.
8
Interstitial deletion 6q16.2q22.2 in a child with ectrodactyly.
Ann Genet. 1996;39(2):105-9.
9
Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation.足裂畸形、小眼畸形、唇腭裂以及与6号染色体和13号染色体易位相关的智力发育迟缓。
Clin Dysmorphol. 1993 Jul;2(3):274-7.
10
Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21.
Am J Med Genet. 1995 Jan 30;55(3):315-8. doi: 10.1002/ajmg.1320550314.