De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism
Joint Authors
Carter, Jennifer
Zombor, Melinda
Máté, Adrienn
Sztriha, László
Waters, Jonathan J.
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-02-03
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
A 10-year-old boy was referred with developmental delay and dysmorphism.
Genomewide aCGH microarray analysis detected a de novo 3.7 Mb deletion at 1q32.1: arr 1q32.1(199,985,888-203,690,832)x1 dn [build HG19].
This first report of a deletion in this region implies a critical role for dosage-sensitive genes within 1q32.1 in neurological development.
This is consistent with previously reported duplications of this region in patients with a similar phenotype.
American Psychological Association (APA)
Carter, Jennifer& Zombor, Melinda& Máté, Adrienn& Sztriha, László& Waters, Jonathan J.. 2016. De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism. Case Reports in Genetics،Vol. 2016, no. 2016, pp.1-3.
https://search.emarefa.net/detail/BIM-1100752
Modern Language Association (MLA)
Carter, Jennifer…[et al.]. De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism. Case Reports in Genetics No. 2016 (2016), pp.1-3.
https://search.emarefa.net/detail/BIM-1100752
American Medical Association (AMA)
Carter, Jennifer& Zombor, Melinda& Máté, Adrienn& Sztriha, László& Waters, Jonathan J.. De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism. Case Reports in Genetics. 2016. Vol. 2016, no. 2016, pp.1-3.
https://search.emarefa.net/detail/BIM-1100752
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1100752
