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Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome
Joint Authors
Dilzell, Kristen
Sum, John
Darcy, Diana C.
Wallerstein, Robert J.
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-05-03
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
This case report concerns a 16-year-old girl with a 9.92 Mb, heterozygous interstitial chromosome deletion at 7q33-q35, identified using array comparative genomic hybridization.
The patient has dysmorphic facial features, intellectual disability, recurrent infections, self-injurious behavior, obesity, and recent onset of hemihypertrophy.
This patient has overlapping features with previously reported individuals who have similar deletions spanning the 7q32-q36 region.
It has been difficult to describe an interstitial 7q deletion syndrome due to variations in the sizes and regions in the few patients reported in the literature.
This case contributes to the further characterization of an interstitial distal 7q deletion syndrome.
American Psychological Association (APA)
Dilzell, Kristen& Darcy, Diana C.& Sum, John& Wallerstein, Robert J.. 2015. Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome. Case Reports in Genetics،Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1058496
Modern Language Association (MLA)
Dilzell, Kristen…[et al.]. Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome. Case Reports in Genetics No. 2015 (2015), pp.1-5.
https://search.emarefa.net/detail/BIM-1058496
American Medical Association (AMA)
Dilzell, Kristen& Darcy, Diana C.& Sum, John& Wallerstein, Robert J.. Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome. Case Reports in Genetics. 2015. Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1058496
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1058496