7q11.23 Duplication Research

7q11.23 Duplication Gene Review

GeneReviews are expert-authored, peer-reviewed disease descriptions (“chapters”) presented in a standardized format and focused on clinically relevant and medically actionable information on the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.

7q11.23 Duplication Physical Characteristics and Natural History

Documented and clinical research published on the medical and physical findings concerning 7q11.23 duplication

Aortopathy in the 7q11.23 microduplication syndrome

Documentation describing aortic dilation in 7q11.23 duplication individuals

Characterization of brain and behavior in 7q11.23 duplication syndrome

Osborne and her team have generated mice with duplications of eight genes from the critical region, as well as mice with a duplication of a single, important candidate gene, GTF2I.

Speech, Language, Cognitive, and Behavioral Characteristics, and their Implications for Intervention

Intensive speech/language therapy is critical for maximizing long-term outcomes.

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

Our findings confirm initial reports of speech delay seen in patients with dup(7)(q11.23) and further delineate and expand the phenotypic spectrum of this condition to include communication, social interactions, and repetitive interests that are often observed in individuals diagnosed with autism spectrum disorders.

Behavior Profile of DNA Disorder Reveals Ties to Autism

The findings, published 21 April in the American Journal of Medical Genetics, support the notion that genes within this surplus swath of DNA, called ‘Dup7,’ may contribute to autism symptoms.

Autism-linked genetic region affects size of brain structures

In the new study, researchers used structural magnetic resonance imaging to look at the size of brain structures in 19 children with Williams syndrome, 7 children with 7q11.23 duplications and 46 controls, all of whom have intelligence quotients in the normal range.

7q11.23 Duplication UNIQUE Pamphlet

The information in this guide is drawn partly from the published medical literature. The first-named author and publication date are given to allow you to look for the abstracts or original articles on the internet in PubMed (http:// www.ncbi.nlm. nih.gov/ pubmed/). If you wish, you can obtain most articles from Unique.

Unstuck and On Target

Unstuck and On Target: An Executive Function Curriculum that Increases Flexibility and On-Task Behavior

WILLIAMS-BEUREN REGION DUPLICATION SYNDROME

The chromosome 7q11.23 duplication syndrome is a multisystem developmental disorder with variable manifestations, most commonly speech delay and mild craniofacial anomalies, and an increased incidence of congenital anomalies such as heart defects, diaphragmatic hernia, and cryptorchidism.

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

Our findings confirm initial reports of speech delay seen in patients with dup(7)(q11.23) and further delineate and expand the phenotypic spectrum of this condition to include communication, social interactions, and repetitive interests that are often observed in individuals diagnosed with autism spectrum disorders.