一名轻度发育迟缓患者存在6号染色体短臂间质性缺失以及涉及2号、6号和14号染色体的复杂易位。 - Suppr

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超能文献

A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient.

作者信息

Misceo Doriana, Bjørgo Kathrine, Ormerod Eli, Ringen Øyvind, Rocchi Mariano, van der Hagen Carl Birger, Frengen Eirik

机构信息

Department of Medical Genetics, Ullevål University Hospital and Faculty of Medicine, University of Oslo, Oslo, Norway.

出版信息

Am J Med Genet A. 2008 Dec 15;146A(24):3230-3. doi: 10.1002/ajmg.a.32582.

DOI:10.1002/ajmg.a.32582

PMID:19012337

Abstract

摘要

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A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient.

作者信息

Misceo Doriana, Bjørgo Kathrine, Ormerod Eli, Ringen Øyvind, Rocchi Mariano, van der Hagen Carl Birger, Frengen Eirik

机构信息

Department of Medical Genetics, Ullevål University Hospital and Faculty of Medicine, University of Oslo, Oslo, Norway.

出版信息

Am J Med Genet A. 2008 Dec 15;146A(24):3230-3. doi: 10.1002/ajmg.a.32582.

DOI:10.1002/ajmg.a.32582

PMID:19012337

Abstract

摘要

相似文献

A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient.

Am J Med Genet A. 2008 Dec 15;146A(24):3230-3. doi: 10.1002/ajmg.a.32582.

An unbalanced translocation between chromosomes 2p and 6p associated with Axenfeld-Rieger anomaly type 3, hearing loss, developmental delay, and distinct facial dysmorphism.

Am J Med Genet A. 2010 May;152A(5):1318-21. doi: 10.1002/ajmg.a.33355.

A complex chromosome rearrangement involving four chromosomes, nine breakpoints and a cryptic 0.6-Mb deletion in a boy with cerebellar hypoplasia and defects in skull ossification.

Cytogenet Genome Res. 2013;141(4):317-23. doi: 10.1159/000353302. Epub 2013 Jun 29.

Cytogenetic and array-CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers-Danlos syndrome.

Am J Med Genet A. 2010 May;152A(5):1314-7. doi: 10.1002/ajmg.a.33254.

De novo translocation (2;18)(q21;q22) in a child with severe epilepsy, developmental delay and mild dysmorphism.

Genet Couns. 2000;11(3):221-7.

14q32.3 deletion syndrome with autism.

Am J Med Genet A. 2005 Feb 15;133A(1):99-100. doi: 10.1002/ajmg.a.30462.

Submicroscopic deletion in 14q32.3 through a de novo tandem translocation between 14q and 21p.

Am J Med Genet. 1998 Dec 28;80(5):443-7. doi: 10.1002/(sici)1096-8628(19981228)80:5<443::aid-ajmg2>3.0.co;2-y.

De novo complex chromosome rearrangement: a study of two patients.

Genet Couns. 2004;15(3):303-10.

Deletion of band 5q21 in association with a de novo translocation involving 2p and 5q.

J Med Genet. 1988 Aug;25(8):570-2. doi: 10.1136/jmg.25.8.570.

Complex chromosome rearrangement involving chromosomes 1, 4 and 16 revealed by fluorescence in situ hybridization.

Clin Genet. 1997 Apr;51(4):281-5. doi: 10.1111/j.1399-0004.1997.tb02472.x.

引用本文的文献

A Rare Case of Branchio-oculo-facial Syndrome: Clinical and Histopathological Features.

Adv Biomed Res. 2018 Nov 27;7:145. doi: 10.4103/abr.abr_31_18. eCollection 2018.

A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21.

Am J Med Genet A. 2010 Jan;152A(1):196-202. doi: 10.1002/ajmg.a.33176.