Partial monosomy 21 (q11.2→q21.3) combined with 3p25.3→pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay-Reference-Cited by-同舟云学术

Partial monosomy 21 (q11.2→q21.3) combined with 3p25.3→pter monosomy due to an unbalanced translocation in a patient presenting dysmorphic features and developmental delay

Published:2013-01 Issue:2 Volume:513 Page:301-304
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Santos Ana Paula dos,Vieira Társis Paiva,Simioni Milena,Monteiro Fabíola Paoli,Gil-da-Silva-Lopes Vera Lúcia

Funder

CNPq — Conselho Nacional de Desenvolvimento Científico e Tecnológico

FAPESP — Fundação de Amparo à Pesquisa do Estado de São Paulo, Brazil

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference28 articles.

1. Cytogenetic and molecular studies of na X, -21 translocation previously diagnosed as complete monosomy 21;Cardoso;Eur. J. Med. Genet.,2008

2. Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children;Cuoco;Orphanet J. Rare Dis.,2011

3. FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions;Dijkhuizen;Am. J. Med. Genet. A,2006

4. Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome;Dundar;Am. J. Med. Genet. A,2010

5. The novel Rho-GTPase activating gene MEGAP/srGAP3 has a putative role in severe mental retardation;Endris;Proc. Natl. Acad. Sci.,2002

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1. Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies;Molecular Cytogenetics;2018-08-01

2. Circles reshaping the RNA world: from waste to treasure;Molecular Cancer;2017-03-09

3. Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development;Molecular Cytogenetics;2016-02-04