edoc

Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement

Al-Kateb, Hussam and Khanna, Geetika and Filges, Isabel and Hauser, Natalie and Grange, Dorothy K. and Shen, Joseph and Smyser, Christopher D. and Kulkarni, Shashikant and Shinawi, Marwan. (2014) Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement. American journal of medical genetics. Part A, 164A (5). pp. 1118-1126.

Full text not available from this repository.

Official URL: https://edoc.unibas.ch/62057/

Downloads: Statistics Overview

Abstract

The typical chromosome 16p11.2 rearrangements are estimated to occur at a frequency of approximately 0.6% of all samples tested clinically and have been identified as a major cause of autism spectrum disorders, developmental delay, behavioral abnormalities, and seizures. Careful examination of patients with these rearrangements revealed association with abnormal head size, obesity, dysmorphism, and congenital abnormalities. In this report, we extend this list of phenotypic abnormalities to include scoliosis and vertebral anomalies. We present detailed characterization of phenotypic and radiological data of 10 new patients, nine with the 16p11.2 deletion and one with the duplication within the coordinates chr16:29,366,195 and 30,306,956 (hg19) with a minimal size of 555 kb. We discuss the phenotypical and radiological findings in our patients and review 5 previously reported patients with 16p11.2 rearrangement and similar skeletal abnormalities. Our data suggest that patients with the recurrent 16p11.2 rearrangement have increased incidence of scoliosis and vertebral anomalies. However, additional studies are required to confirm this observation and to establish the incidence of these anomalies. We discuss the potential implications of our findings on the diagnosis, surveillance and genetic counseling of patients with 16p11.2 rearrangement.
Faculties and Departments:03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Medizinische Genetik (Miny)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Medizinische Genetik (Miny)
UniBasel Contributors:Filges, Isabel
Item Type:Article, refereed
Article Subtype:Further Journal Contribution
Publisher:Wiley
ISSN:1552-4825
e-ISSN:1552-4833
Note:Publication type according to Uni Basel Research Database: Journal item
Identification Number:
Last Modified:27 Jul 2020 15:21
Deposited On:27 Jul 2020 15:21

Repository Staff Only: item control page