Work

Deletion 22q11.2: Report of a complex meiotic mechanism of origin

Year: 2007

Type: article

Study design: Case Report

Abstract: We report on the case of a patient with a typical de novo 3 Mb 22q11.2 deletion. Haplotype reconstruction of the family, using polymorphic markers flanking the deleted region, demonstrated a complex mechanism of origin of the deletion, involving one intrachromosomal and two interchromosomal events.

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.31834

Authors: Sintia Iole Nogueira, April M. Hacker, Fernanda T. S. Bellucco, Leslie Domenici Kulikowski, Denise Maria Christofolini, Mirlene C. Cernach, Maria Isabel Melaragno, Beverly S. Emanuel

Institutions: Universidade Federal de São Paulo, Children's Hospital of Philadelphia, University of Pennsylvania

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Coordenação de Aperfeiçoamento de Pessoal de Nível Superior, Conselho Nacional de Desenvolvimento Científico e Tecnológico, National Cancer Institute, National Institute on Deafness and Other Communication Disorders

Awards: G2708713885, VELOCARDIOFACIAL SYNDROME-MOLECULAR AND CLINICAL STUDIES, Cytogenetic and Molecular Studies of Chromosome 22, G4846783882

OpenAlex ID: W2167407810

FWCI:

Cites: 18

Cited by: 2

Related to: 10