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
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CASE REPORT
Our case, a 9-year-old girl and the only child of her
family who have taken individual training for her social
development, was examined at the Child and Adolescent
Psychiatry Department, Trakya University, Edirne, Turkey.
It was learned that she had been diagnosed with ASD some
years ago and had both pharmacotherapy and individual
training for her treatment. Our findings were a clinically
mild intellectual disability, rounded face, pointed chin
and no autistic findings. We learned that her neuromotor
development was delayed and she had neonatal hypotonia
in her history. The parents had no history of mental
disorder or genetic illness. She was born by spontaneous
delivery. She weighed 2850 g and was 50 cm long at birth
and she was breast-fed by her mother for 18 months. She
sat up in her 10th month and walked in her 16th month.
Her language development was delayed. Her mother said
that she showed head banging behavior between 7 months
and 1 year. At 4 years old, she exhibited irritability and
aggressive behavior towards her peers and teachers at the
crèche she was attending, and risperidone treatment was
begun. The intelligence test could not be applied because
of her speech problems. She had no history of febrile convulsions.
The results of neurological examination and the
routine biochemical blood tests were normal. We discontinued
her risperidone treatment in order to assess her
mental state. Consequently, there was a remanifestation
of her aggressive behavior and irritability. Subsequently,
the risperidone treatment was restarted and she became
stabilized. Then her genetic analyses were examined at
the Department of Medical Genetics, Trakya University,
Edirne, Turkey. Cytogenetic analysis was performed with
GTG-banded chromosomes from cultured lymphocytes.
Genomic DNA of the patient was isolated according to the
instructions of the manufacturer (EZ1 Advanced Instruments;
Qiagen GmbH, Hilden, Germany) from peripheral
blood lymphocytes. Genomic regions previously related
to mental retardation and possible deletion/duplication
regions were analyzed by the multiplex ligation-dependent
probe amplification (MLPA) method (MRC-Holland, Amsterdam,
The Netherlands), using P064-C1 mental retardation
and P373-B1 microdeletion probe mixes, respectively.
The DNA concentration of samples was optimized as 50
ng/μL for the array comparative genomic hybridization
(aCGH) study. For the aCGH method, SurePrint G3 Human
microarrays 8 × 60 K (Agilent Technologies, Palo
Alto, CA, USA) were used, according to the manufacturer’s
instructions. Microarray slides were scanned with
3 mm resolution in the microarray scanner system (Agilent
Technologies). Feature Extraction 12.0.1.1 and Cytogenomics
2.9.2.4 (Agilent Technologies) software was used
for the analysis of the samples. The subtelomeric FISH
technique was performed using a commercially available
set of probes Aquarius® Subtelomere Specific Probe (Cytocell
Ltd., Cambridge, Cambridgeshire, UK), according to
the manufacturer’s instructions. The probes are targeted to
the sub-telomeric regions mostly at a 100-300 kb distance
from the end of each of the chromosome arms, excluding
the short arms of acrocentric chromosomes.
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