Balkan Journal of Medical Genetics

A 9-YEAR-OLD-GIRL WITH PHELAN McDERMID SYNDROME, WHO HAD BEEN DIAGNOSED WITH AN AUTISM SPECTRUM DISORDER
Görker I, Gürkan H, Demir Ulusal S, Atlı E, Ikbal Atlı E
*Corresponding Author: Işık Görker, Child and Adolescent Psychiatry Department, Trakya University, Faculty of Medicine, Balkan Yerleskesi, 22030, Edirne, Turkey. Tel: +90-532-355-9277. Fax: +90-284-435-7652. E-mail: isikgorker@gmail.com
page: 85

INTRODUCTION

The 22q13.3 deletion syndrome, also known as Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22 [1]. 22q13.3 deletions and mutations that lead to a loss of a functional copy of SHANK3 (OMIM *606230) cause the syndrome, characterized by moderate-to-profound intellectual disability, severely delayed or absent speech, hypotonia, and autism spectrum disorder (ASD) or ASD traits [2]. This syndrome results from a de novo deletion of chromosome 22 in 80.0- 85.0% of individuals, and approximately 70.0% of the deletions are paternal in origin; it also results from an unbalanced chromosome rearrangement involving chromosome 22 in 15.0-20.0% of cases, of which approximately 50.0% are inherited from a balanced carrier parent. The rearrangement is equally likely to be inherited from the mother or the father [1]. In this study, we present the case of a 9-year-old girl who had been diagnosed with AS D, assessed and diagnosed with PHMDS using genetic analyses and the results are discussed.

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