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Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism
Joint Authors
Goitia, Veronica
Oquendo, Marcial
Stratton, Robert
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-03-29
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Introduction.
More than 60 cases of 7p22 duplications and deletions have been reported with over 16 of them occurring without concomitant chromosomal abnormalities.
Patient and Methods.
We report a 29-month-old male diagnosed with autism.
Whole genome chromosome SNP microarray (REVEAL) demonstrated a 1.3 Mb interstitial duplication of 7p22.1 ->p22.1 arr 7p22.1 (5,436,367–6,762,394), the second smallest interstitial 7p duplication reported to date.
This interval included 14 OMIM annotated genes (FBXL18, ACTB, FSCN1, RNF216, OCM, EIF2AK1, AIMP2, PMS2, CYTH3, RAC1, DAGLB, KDELR2, GRID2IP, and ZNF12).
Results.
Our patient presented features similar to previously reported cases with 7p22 duplication, including brachycephaly, prominent ears, cryptorchidism, speech delay, poor eye contact, and outburst of aggressive behavior with autism-like features.
Among the genes located in the duplicated segment, ACTB gene has been proposed as a candidate gene for the alteration of craniofacial development.
Overexpression of RNF216L has been linked to autism.
FSCN1 may play a role in neurodevelopmental disease.
Conclusion.
Characterization of a possible 7p22.1 Duplication Syndrome has yet to be made.
Recognition of the clinical spectrum in patients with a smaller duplication of 7p should prove valuable for determining the minimal critical region, helping delineate a better prediction of outcome and genetic counseling
American Psychological Association (APA)
Goitia, Veronica& Oquendo, Marcial& Stratton, Robert. 2015. Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism. Case Reports in Genetics،Vol. 2015, no. 2015, pp.1-6.
https://search.emarefa.net/detail/BIM-1058499
Modern Language Association (MLA)
Goitia, Veronica…[et al.]. Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism. Case Reports in Genetics No. 2015 (2015), pp.1-6.
https://search.emarefa.net/detail/BIM-1058499
American Medical Association (AMA)
Goitia, Veronica& Oquendo, Marcial& Stratton, Robert. Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism. Case Reports in Genetics. 2015. Vol. 2015, no. 2015, pp.1-6.
https://search.emarefa.net/detail/BIM-1058499
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1058499