A 12-year Life History of a Girl with Profound Intellectual Disability and Leukoencephalopathy: A Rare Clinical Presentation of X Chromosome Pentasomy
Izbassarova A. Zholdybayeva A. Kadrzhanova G. Kashikova K. Izbassarova A. Petrova N. Tolybekova A.
2024Iran University of Medical Sciences
Medical Journal of the Islamic Republic of Iran
2024#38Issue 1
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. Copyright
Aneuploidy , Chromosome Aberrations , Leukoencephalopathy , Mental Retardation , Pentasomy X
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KazNMU named S.D. Asfendiyarov, Almaty, Kazakhstan
Caspian University, International School of Medicine, Almaty, Kazakhstan
Kazakhstan-Russian Medical University, Almaty, Kazakhstan
KazNMU named S.D. Asfendiyarov
Caspian University
Kazakhstan-Russian Medical University
10 лет помогаем публиковать статьи Международный издатель
Книга Публикация научной статьи Волощук 2026 Book Publication of a scientific article 2026