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Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 – qter, autism spectrum disorder and unusual features
Journal article   Open access   Peer reviewed

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 and Hatem El‐Shanti
Clinical case reports, Vol.2(5), pp.201-205
10/2014
DOI: 10.1002/ccr3.94
PMCID: PMC4302626
PMID: 25614812
url
https://doi.org/10.1002/ccr3.94View
Published (Version of record) Open Access

Abstract

Key Clinical Message 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. 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.
quantitative PCR trisomy 10q syndrome Autism spectrum disorder genome‐wide SNP genotyping

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