SNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome
Joint Authors
Halder, Ashutosh
Jain, Manish
Kalsi, Amanpreet Kaur
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-18, 18 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-03-09
Country of Publication
Egypt
No. of Pages
18
Main Subjects
Abstract EN
The present study evaluated the role of SNP microarray in 101 cases of clinically suspected FISH negative (noninformative/normal) 22q11.2 microdeletion syndrome.
SNP microarray was carried out using 300 K HumanCytoSNP-12 BeadChip array or CytoScan 750 K array.
SNP microarray identified 8 cases of 22q11.2 microdeletions and/or microduplications in addition to cases of chromosomal abnormalities and other pathogenic/likely pathogenic CNVs.
Clinically suspected specific deletions (22q11.2) were detectable in approximately 8% of cases by SNP microarray, mostly from FISH noninformative cases.
This study also identified several LOH/AOH loci with known and well-defined UPD (uniparental disomy) disorders.
In conclusion, this study suggests more strict clinical criteria for FISH analysis.
However, if clinical criteria are few or doubtful, in particular newborn/neonate in intensive care, SNP microarray should be the first screening test to be ordered.
FISH is ideal test for detecting mosaicism, screening family members, and prenatal diagnosis in proven families.
American Psychological Association (APA)
Halder, Ashutosh& Jain, Manish& Kalsi, Amanpreet Kaur. 2016. SNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome. Scientifica،Vol. 2016, no. 2016, pp.1-18.
https://search.emarefa.net/detail/BIM-1117791
Modern Language Association (MLA)
Halder, Ashutosh…[et al.]. SNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome. Scientifica No. 2016 (2016), pp.1-18.
https://search.emarefa.net/detail/BIM-1117791
American Medical Association (AMA)
Halder, Ashutosh& Jain, Manish& Kalsi, Amanpreet Kaur. SNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome. Scientifica. 2016. Vol. 2016, no. 2016, pp.1-18.
https://search.emarefa.net/detail/BIM-1117791
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1117791