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Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia.

作者信息

Nienhaus H, Mau U, Zang K D, Henn W

机构信息

Institute of Human Genetics, Saarland University, Homburg/Saar, Germany.

出版信息

Am J Med Genet. 1993 Jul 1;46(6):630-1. doi: 10.1002/ajmg.1320460605.

DOI:10.1002/ajmg.1320460605
PMID:8362902
Abstract

We describe a male patient with a pericentric inversion of chromosome 6 and classic cleidocranial dysplasia (CCD), mild to moderate mental retardation, hearing deficiency, and unusual facial appearance. We conclude that there is a causal relationship between the chromosomal disorder and the CCD.

摘要

相似文献

1
Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia.
Am J Med Genet. 1993 Jul 1;46(6):630-1. doi: 10.1002/ajmg.1320460605.
2
A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia.一名患有锁骨颅骨发育不全的儿童存在一种复杂的染色体重排,即6号衍生染色体,插入(6)(p21.1q25.3q27),倒位(6)(p25.3q27) 。
Eur J Med Genet. 2011 Jul-Aug;54(4):e394-8. doi: 10.1016/j.ejmg.2011.03.011. Epub 2011 Apr 3.
3
Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion.
Am J Med Genet. 1995 Aug 28;58(2):200-5. doi: 10.1002/ajmg.1320580222.
4
Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals.三名个体中与8q22异常相关的明显锁骨颅骨发育不全。
Am J Med Genet. 1992 Jun 1;43(3):612-8. doi: 10.1002/ajmg.1320430322.
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Otolaryngological manifestations of cleidocranial dysplasia, concentrating on audiological findings.锁骨颅骨发育不全的耳鼻喉科表现,重点关注听力学检查结果。
Laryngoscope. 2003 Sep;113(9):1508-14. doi: 10.1097/00005537-200309000-00017.
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Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia.排除骨形态发生蛋白6作为锁骨颅骨发育不全症的候选基因。
Am J Med Genet. 1997 Aug 22;71(3):292-7.
7
A familial complex chromosome translocation resulting in duplication of 6p25.
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De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation.
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A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.锁骨颅骨发育不全基因定位于6号染色体短臂。
Am J Hum Genet. 1995 Apr;56(4):938-43.
10
[Orthodontic and oral surgery therapy in cleidocranial dysplasia].锁骨颅骨发育不全的正畸与口腔外科治疗
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Heterozygous pathogenic variants involving cause a new skeletal disorder resembling cleidocranial dysplasia.涉及的杂合性致病性变异导致一种新的骨骼疾病,类似于 cleidocranial dysplasia。
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Cleidocranial dysplasia: complete clinical, radiological and histological profiles.锁骨颅骨发育不全:完整的临床、放射学和组织学特征
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De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia.一名患有锁骨颅骨发育不全的男性出现新生的46,XY,t(4;6;21)(p16;p21.1;q21) 三向染色体易位。
Am J Med Genet A. 2008 Feb 15;146A(4):453-8. doi: 10.1002/ajmg.a.31750.
6
Cleidocranial dysplasia: clinical and molecular genetics.锁骨颅骨发育不全:临床与分子遗传学
J Med Genet. 1999 Mar;36(3):177-82.
7
Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity.历史悠久的开普敦(阿诺德)家族锁骨颅骨发育不全基因的定位及基因座同质性证据。
J Med Genet. 1996 Jun;33(6):511-4. doi: 10.1136/jmg.33.6.511.
8
A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.锁骨颅骨发育不全基因定位于6号染色体短臂。
Am J Hum Genet. 1995 Apr;56(4):938-43.