Ring Chromosome 14 with Localization-related Epilepsy: Three Cases
نویسندگان
چکیده
منابع مشابه
Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis.
Ring chromosomes are rare chromosomal anomalies and usually not stable in nature. Patients carrying ring chromosome have various phenotypes depending on the degree of structural rearrangement. A 1-year-old boy, presenting with hypotonia, blepharophimosis, ptosis, a bulbous nose, mild psychomotor retardation, and epilepsy, was found to have mosaicism of chromosome ring 14 and monosomy 14. His ka...
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autism is a complex neuropsychiatric disorder that manifests in early childhood. although the etiology is unknown yet but, new hypothesis focused on identifying the key genes related to autism may elucidate its etiology. the main objective of the present study was to verify the value of karyotyping in autistic children and identifying association between chromosome abnormalities and autism.we e...
متن کاملRing chromosome 14 syndrome presenting with intractable epilepsy: a case report.
Ring chromosome 14 syndrome is a rare genetic disorder. Typically, children with this syndrome have distinct facial features, development delay, microcephaly, seizures, ocular abnormalities, and recurrent respiratory infections. Epilepsy associated with ring chromosome 14 generally shows intractable seizures. We describe a six-month-old girl with ring chromosome 14 syndrome who presented with e...
متن کاملRing chromosome 14. A distinct clinical entity.
In this report two non consanguineous children are presented with strikingly similar phenotypes confirming the existence of a characteristic phenotype due to a ring chromosome 14 formation.
متن کاملInheritance of a ring 14 chromosome.
A family is described in which the mother, her two live offspring, and a therapeutically aborted fetus each had a ring 14 chromosomes. The two children were mentally retarded and the mother's intelligence was at the lower end of the normal range. In addition, the mother had two spontaneous abortions, one of which was shown to be chromosomally normal.
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ژورنال
عنوان ژورنال: Epilepsia
سال: 2003
ISSN: 0013-9580,1528-1167
DOI: 10.1046/j.1528-1157.2003.05403.x