A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype-Reference-Cited by-同舟云学术

A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype

Published:2015-09-02 Issue:1 Volume:8 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

Primerano A.,Colao E.,Villella C.,Nocera M. D.,Ciambrone A.,Luciano E.,D’Antona L.,Vismara M. F. M.,Loddo S.,Novelli A.,Perrotti N.,Malatesta Paola

Funder

MIUR-PRIN

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry, medical,Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Link

http://link.springer.com/content/pdf/10.1186/s13039-015-0172-1

Reference23 articles.

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2. Beaudet AL. The utility of chromosomal microarray analysis in developmental and behavioral pediatrics. Child Dev. 2013;84(1):121–32.

3. Colao E, Granata T, Vismara MF, Bombardiere F, Nocera D, Luciano E, et al. A case of premature ovarian failure in a 33-year-old woman. Case Rep Genet. 2013; doi: 10.1155/2013/573841 .

4. Niebuhr E. The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet. 1978;44(3):227–75.

5. Cerruti Mainardi P. Cri du Chat syndrome. Orphanet J Rare Dis. 2006;1:33.

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