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Formation of a familial ring chromosome 18 investigated by SNP-array analysis

  • Published:2014-03-26 Issue:7 Volume:164 Page:1854-1856
  • ISSN:1552-4825
  • Container-title:American Journal of Medical Genetics Part A
  • language:en
  • Short-container-title:Am. J. Med. Genet.

Author:

Balci Sevim1,Zschocke Johannes2,Kotzot Dieter2,Ergün Mehmet Ali3,Spreiz Ana2

Affiliation:

1. Department of Clinical Genetics; Ihsan Doğramaci Children's Hospital; Hacettepe University; Ankara Turkey

2. Division of Human Genetics; Department of Medical Genetics; Molecular and Clinical Pharmacology; Innsbruck Medical University; Innsbruck Austria

3. Department of Medical Genetics, Faculty of Medicine; Gazi University; Ankara Turkey

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference10 articles.

1. Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX;Balci;Am J Med Genet Part A,2011

2. Ring chromosome 18 in mother and daughter;Christensen;J Ment Defic Res,1970

3. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis;Conlin;Hum Mol Genet,2010

4. Ring chromosome 18 in a mother and son;Donlan;Am J Med Genet,1986

5. Transmission of an 18 ring chromosome in two generations in subjects of normal phenotype;Faugeras;J Genet Hum,1986

Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mosaic ring chromosome 18 in a Chinese child with epilepsy: a case report and review of the literature;Neurological Sciences;2021-04-08

2. R(18) Syndrome;Atlas of Genetic Diagnosis and Counseling;2017

3. R(18) Syndrome;Atlas of Genetic Diagnosis and Counseling;2016

4. Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing;BMC Medical Genetics;2015-07-30
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