Volume 38, Issue 1 (1-2024)                   Med J Islam Repub Iran 2024 | Back to browse issues page

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Izbasarova A, Zholdybayeva A, Kadrzhanova G, Kashikova K, Izbasarova A, Petrova N et al . A 12-year Life History of a Girl with Profound Intellectual Disability and Leukoencephalopathy: A Rare Clinical Presentation of X Chromosome Pentasomy. Med J Islam Repub Iran 2024; 38 (1) :265-269
URL: http://mjiri.iums.ac.ir/article-1-8957-en.html
A 12-year Life History of a Girl with Profound Intellectual Disability and Leukoencephalopathy: A Rare Clinical Presentation of X Chromosome Pentasomy
Akmaral Izbasarova , Aisulu Zholdybayeva , Galiya Kadrzhanova , Khadisha Kashikova , Asel Izbasarova , Natalya Petrova , Alima Tolybekova
Caspian University, International School of Medicine, Almaty, Kazakhstan , hadisha.kash@gmail.com
Abstract:   (253 Views)
This paper presents a unique 12-year case analysis of a girl with Penta-X syndrome, a chromosomal abnormality characterized by five X chromosomes instead of the normal two in healthy women. Pentasomy of X is a genetic, but not a hereditary disease affecting only women. Our patient demonstrated delayed mental, speech, and motor development along with physical anomalies such as craniofacial deformities, and eye pathology and was diagnosed with pentasomy of the X chromosome at the age of 3 after a cytogenetic examination. She developed epileptic seizures at the age of nine. Magnetic resonance imaging(MRI) revealed leukoencephalopathy with ventriculomegaly. The peculiarity of this observation is that the polysomy 49, XXXXX detected in the patient is characterized by a typical phenotypic presentation combined with demyelinating leukoencephalopathy, which has not been a typical feature of the disorder.
 
Keywords: Pentasomy X, Chromosome Aberrations, Aneuploidy, Mental Retardation, Leukoencephalopathy
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Type of Study: case report | Subject: Human Genetics
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