ScholarLens Back to search
1982•American Journal of Medical GeneticsRequires access

A clinical syndrome associated with dup(5p)

Alessandra Carnevale, Marisela Hernández, Irma Limón‐Toledo, Sara Frı́as, Julieta Castillo, Victoria del Castillo, John M. Opitz

Open publisher page 31 citations

Abstract

Abstract We report two cases of dup(5p), both the consequence of an unbalanced segregation of a balanced translocation. Our cases and those previously published suggest that dup(5p) when involving at least a portion of band 5p13 results in a recognizable clinical syndrome of congenital malformations, mental retardation, and growth failure. Although the size of the trisomic segment is different, the patients have a similar phenotype.

About this research paper

What this paper is about

Abstract We report two cases of dup(5p), both the consequence of an unbalanced segregation of a balanced translocation. Our cases and those previously published suggest that dup(5p) when involving at least a portion of band 5p13 results in a recognizable clinical syndrome of congenital malformations, mental retardation, and growth failure. Although the size of the trisomic segment is different, the patients have a similar phenotype.

Why it matters

OpenAlex reports 31 citations for this work. Citation counts describe recorded attention and do not establish research quality.

Key contribution

A contribution statement is not available in the OpenAlex record.

Method / approach

Method details are not available in the OpenAlex metadata.

Main findings

Findings are not separately available in the OpenAlex metadata.

Limitations

Limitations are not available in the OpenAlex metadata.

Applications

Application details are not available in the OpenAlex metadata.

Available abstract

Abstract We report two cases of dup(5p), both the consequence of an unbalanced segregation of a balanced translocation. Our cases and those previously published suggest that dup(5p) when involving at least a portion of band 5p13 results in a recognizable clinical syndrome of congenital malformations, mental retardation, and growth failure. Although the size of the trisomic segment is different, the patients have a similar phenotype.

Key concepts: dup, Phenotype, Chromosomal translocation, Congenital malformations, Clinical phenotype, Genetics, Pediatrics, Biology

Related papers

Related paper 1Related paper 2Related paper 3
Back to paper searchBrowse research topicsOriginal source
A clinical syndrome associated with dup(5p) — Research Paper | ScholarLens