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The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology
Joint Authors
Leite, Ana Julia Cunha
Pinto, Irene Plaza
Cunha, Damiana Mirian da Cruz e
Ribeiro, Cristiano Luiz
da Silva, Claudio Carlos
da Cruz, Aparecido Divino
Minasi, Lysa Bernardes
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-03-31
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
The chromosome 22q11.2 region has long been implicated in genomic diseases.
Some genomic regions exhibit numerous low copy repeats with high identity in which they provide increased genomic instability and mediate deletions and duplications in many disorders.
DiGeorge Syndrome is the most common deletion syndrome and reciprocal duplications could be occurring in half of the frequency of microdeletions.
We described five patients with phenotypic variability that carries deletions or reciprocal duplications at 22q11.2 detected by Chromosomal Microarray Analysis.
The CytoScan HD technology was used to detect changes in the genome copy number variation of patients who had clinical indication to global developmental delay and a normal karyotype.
We observed in our study three microdeletions and two microduplications in 22q11.2 region with variable intervals containing known genes and unstudied transcripts as well as the LCRs that are often flanking and within this genomic rearrangement.
The identification of these variants is of particular interest because it may provide insight into genes or genomic regions that are crucial for specific phenotypic manifestations and are useful to assist in the quest for understanding the mechanisms subjacent to genomic deletions and duplications.
American Psychological Association (APA)
Leite, Ana Julia Cunha& Pinto, Irene Plaza& Cunha, Damiana Mirian da Cruz e& Ribeiro, Cristiano Luiz& da Silva, Claudio Carlos& da Cruz, Aparecido Divino…[et al.]. 2016. The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology. BioMed Research International،Vol. 2016, no. 2016, pp.1-9.
https://search.emarefa.net/detail/BIM-1098783
Modern Language Association (MLA)
Leite, Ana Julia Cunha…[et al.]. The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology. BioMed Research International No. 2016 (2016), pp.1-9.
https://search.emarefa.net/detail/BIM-1098783
American Medical Association (AMA)
Leite, Ana Julia Cunha& Pinto, Irene Plaza& Cunha, Damiana Mirian da Cruz e& Ribeiro, Cristiano Luiz& da Silva, Claudio Carlos& da Cruz, Aparecido Divino…[et al.]. The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology. BioMed Research International. 2016. Vol. 2016, no. 2016, pp.1-9.
https://search.emarefa.net/detail/BIM-1098783
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1098783