Abstract
We report a case of a girl with a chromosomal disorder that has never been described in the literature: inversion of chromosome 4 with an unbalanced translocation between the short arm of chromosome 4 and long arm of chromosome 18. Clinical manifestations of this syndrome included severe growth retardation, very slow weight gain, optic nerve hypoplasia, pronounced delay in mental and motor development, and epilepsy with focal hemiclonic fever-related seizures of varying location. The patient has multiple stigmas of dysembryogenesis, but no abnormalities in the development of internal organs. The somatic status is complicated by chronic liquid aspiration and sleep apnea. Magnetic resonance imaging has demonstrated agenesis of the corpus callosum. In this article, we have summarized the results of clinical observation and electroencephalography findings obtained during several years. The type of epilepsy in this girl does not match Wolf–Hirschhorn syndrome (which is determined by her karyotype), but is similar to epilepsy in patients with aberrations of the long arm of chromosome 18.
Highlights
Случай инверсии хромосомы 4 и несбалансированной транслокации между коротким плечом хромосомы 4 и длинным плечом хромосомы 18 у девочки: эволюция клинических и электроэнцефалографических проявлений
We report a case of a girl with a chromosomal disorder that has never been described in the literature: inversion of chromosome 4 with an unbalanced translocation between the short arm of chromosome 4 and long arm of chromosome 18
The type of epilepsy in this girl does not match Wolf–Hirschhorn syndrome, but is similar to epilepsy in patients with aberrations of the long arm of chromosome 18
Summary
Случай инверсии хромосомы 4 и несбалансированной транслокации между коротким плечом хромосомы 4 и длинным плечом хромосомы 18 у девочки: эволюция клинических и электроэнцефалографических проявлений. Представлена история болезни девочки с ранее не описанной в мировой литературе хромосомной патологией: инверсией хромосомы 4 с несбалансированной транслокацией между коротким плечом хромосомы 4 и длинным плечом хромосомы 18. We report a case of a girl with a chromosomal disorder that has never been described in the literature: inversion of chromosome 4 with an unbalanced translocation between the short arm of chromosome 4 and long arm of chromosome 18 Clinical manifestations of this syndrome included severe growth retardation, very slow weight gain, optic nerve hypoplasia, pronounced delay in mental and motor development, and epilepsy with focal hemiclonic fever-related seizures of varying location. При рождении диагностированы множественные стигмы дизэмбриогенеза (двусторонний блефарофимоз, колобома радужки, лицевые дисморфии, агенезия мозолистого тела по данным нейросонографии). Физическое развитие пациентки Е. (масса тела и рост) в зависимости от возраста
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