title: A 9-year-old-girl with Phelan McDermid Syndrome, who had been diagnosed with an autism spectrum disorder.
abstract: Phelan McDermid Syndrome (PHMDS) (OMIM #606232), is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. The 22q13.3 deletions and mutations that lead to a loss of a functional copy ofSHANK3(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. In this study, we present the case of a 9-year-old girl who had earlier been diagnosed with an ASD. Our findings were a clinically mild intellectual disability, rounded face, pointed chin but no autistic findings. We learned that her neuromotor development was delayed and she had neonatal hypotonia in her history. A heterozygous deletion ofMLC1,SBF1,MAPK8IP2,ARSA,SHANK3andACRgenes, located on 22q13.33, was defined by multiplex ligation-dependent probe amplification (MLPA). Deletion of 22q13.3 (ARSA) region was confirmed by a fluorescentin situhybridization (FISH) technique. The 22q13.3 deletion was found to bede novoin our patient, and she was diagnosed with PHMDS. We confirmed the 22q13.3 deletion and also determined a gain of 8p23.3-23.2 by array comparative genomic hybridization (aCGH). Fluorescentin situhybridization was performed to determine whether the deletion was of parental origin and to identify regions of chromosomes where the extra 8p may have been located. The parents were found to be normal. The extra copy of 8p was observed on 22q in the patient. She is the first case reported in association with the 22q deletion of 8p duplications in the literature.
authors.affiliation: Child and Adolescent Psychiatry Department, Trakya University, Faculty of Medicine, Edirne, Turkey.
authors.forename: I
authors.initials: I
authors.lastname: Görker
authors.affiliation: Medical Genetics Department, Trakya University, Faculty of Medicine, Edirne, Turkey.
authors.forename: H
authors.initials: H
authors.lastname: Gürkan
authors.affiliation: Medical Genetics Department, Trakya University, Faculty of Medicine, Edirne, Turkey.
authors.forename: S
authors.initials: S
authors.lastname: Demir Ulusal
authors.affiliation: Medical Genetics Department, Trakya University, Faculty of Medicine, Edirne, Turkey.
authors.forename: E
authors.initials: E
authors.lastname: Atlı
authors.affiliation: Medical Genetics Department, Trakya University, Faculty of Medicine, Edirne, Turkey.
authors.forename: E
authors.initials: E
authors.lastname: Ikbal Atlı
keywords: 22q13.3 deletion; Autism spectrum disorder (ASD); Phelan McDermid Syndrome (PHMDS)