Subtelomeric trisomy 21q: A new benign chromosomal variant-Reference-Cited by-同舟云学术

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Subtelomeric trisomy 21q: A new benign chromosomal variant

Published:2007-01 Issue:1 Volume:50 Page:54-59
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Bonaglia Maria Clara,Marelli Susan,Gottardi Giulietta,Zucca Claudio,Pramparo Tiziano,Giorda Roberto,Grasso Rita,Borgatti Renato,Zuffardi Orsetta

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference23 articles.

1. Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes;Aldred;J. Med. Genet.,2004

2. The promise and pitfalls of telomere region-specific probes;Baliff;Am. J. Hum. Genet.,2000

3. The end of the beginning of chromosome ends;Biesecker;Am. J. Med. Genet.,2002

4. Distal trisomy 6p and 20q owing to the concurrent transposition of distal 6p and 20q to the 22q telomere: a genomic polymorphism?;Bonaglia;J. Med. Genet.,2003

5. Telomeres: a diagnosis at the end of the chromosomes;De Vries;J. Med. Genet.,2003

Cited by 8 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. Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report;Biomedical Reports;2019-05-13

2. Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder;Journal of Autism and Developmental Disorders;2017-03-02

3. A Subtle Familial Translocation t(3;21)(p26.3;q22.3): An Apparently Healthy Boy with a 3p Deletion and 21q Duplication;Cytogenetic and Genome Research;2010

4. A novelCLN8mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function;Human Mutation;2009-07

5. Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome;European Journal of Endocrinology;2009-04

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