An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly
Joint Authors
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-12-08
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Interstitial deletions of the distal 7q region are considered a rare entity.
In this report, we describe a seven-year-old male with a heterozygous interstitial deletion at 7q33-36.1 with characteristic dysmorphic facial features, intellectual disability, severe microcephaly, and significant language delay.
The primary focus of our report is to compare our case with the few others in the literature describing interstitial deletions at the long arm of chromosome 7.
Based on the various breakpoints in prior studies, a number of phenotypic variations have been identified that are unique to each of the reports.
However, there are also a number of similarities among these cases as well.
We hope to provide a concise review of the literature and genes involved within our deletion sequence in the hope that it will contribute to creating a phenotypic profile for this patient population.
American Psychological Association (APA)
Kale, Trupti& Philip, Melissa. 2016. An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly. Case Reports in Genetics،Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1100759
Modern Language Association (MLA)
Kale, Trupti& Philip, Melissa. An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly. Case Reports in Genetics No. 2016 (2016), pp.1-5.
https://search.emarefa.net/detail/BIM-1100759
American Medical Association (AMA)
Kale, Trupti& Philip, Melissa. An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly. Case Reports in Genetics. 2016. Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1100759
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1100759