Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 - qter, autism spectrum disorder and unusual features

Yasser Al-Sarraj; Hakam Abu Al-Khair; Rowaida Ziad Taha; Namat Khattab; Zakaria H El Sayed; Bushra Elhusein; Hatem El-Shanti

doi:10.1002/ccr3.94

Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 - qter, autism spectrum disorder and unusual features

Clin Case Rep. 2014 Oct;2(5):201-5. doi: 10.1002/ccr3.94. Epub 2014 Jul 25.

Authors

Yasser Al-Sarraj¹, Hakam Abu Al-Khair², Rowaida Ziad Taha¹, Namat Khattab¹, Zakaria H El Sayed², Bushra Elhusein², Hatem El-Shanti³

Affiliations

¹ Shafallah Medical Genetics Center Doha, Qatar.
² Shafallah Center for Children with Special Needs Doha, Qatar.
³ Shafallah Medical Genetics Center Doha, Qatar ; Carver College of Medicine, University of Iowa Iowa City, Iowa.

PMID: 25614812
PMCID: PMC4302626
DOI: 10.1002/ccr3.94

Abstract

We report on a patient with distal trisomy 10q syndrome presenting with a few previously undescribed physical features, as well as, autism spectrum disorder (ASD). We recommend that patients with distal trisomy 10q syndrome should have a behavioral evaluation for ASD for the early institution of therapy.

Keywords: Autism spectrum disorder; genome-wide SNP genotyping; quantitative PCR; trisomy 10q syndrome.

Publication types

Case Reports