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

RESULTS

Cytogenetic analysis of GTG-banded chromosomes from cultured lymphocytes revealed a normal female karyotype. A heterozygous deletion of MLC1, SBF1, MAPK8IP2, ARSA, SHANK3 and ACR genes, located on 22q13.33, was defined in the analysis of the P373-B1 MLPA (MRC-Holland) probe mix. Deletion of the 22q 13.3 (ARSA) region was confirmed by the FISH technique using DiGeorge Region Probe (Vysis DiGeorge Region Probe-LSI TUBLE1 (HIRA) SpectrumOrange/TelVysion; Abbott Molecular, Abbott Park, IL, USA) (Figure 1). We applied chromosomal microarray analysis to specify the breakpoints of the deletion in the 22q13.3 region. As a result of the aCGH study, we confirmed the 22q13.3 deletion, in addition, we determined a gain of 8p23.3-23.2 (Figure 2). The copy number variation (CNV) regions, CNV size, breakpoints of the CNV and aberration type of the patient are shown in Table 1. The FISH analysis performed with Aquarius® Subtelomere Specific Probe Set (Cytocell Ltd.) to determine the location of duplicated segment of 8p revealed that it was located on the deleted part of 22q. The parents were found to have a normal karyotype in cytogenetic analyses. Both the 8p23.3-23.2 gain and 22q13.3 deletion were not present in the parents according to the analyses by MLPA and FISH probes. Therefore, the 22q13.3 deletion and 8p23.3-23.2 gain were the result of a de novo event in the patient.

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