[Epilepsy in a child with ring chromosome 14].
A case of epilepsy in a child with ring chromosome 14 is presented. The typical features for the ring chromosome 14 syndrome in 5 years old girl i.e. psychomotor retardation, microcephaly, generalized hypotonia and some dysmorphism were found. Photoanthropometric method by Stengel-Rutkowski et al. for better estimate of dysmorphic pattern was used. It made possible to ascribe the features to partial deletion of the long arm segment of chromosome 14. Computer tomography revealed brain atrophy.
Midro
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Zakładu Genetyki Klinicznej, Instytutu Połoznictwa i Chorób Kobiecych AM, Białymstoku.
Zadrozna-Tołwińska
B
B
D001921:Brain / Q000503:physiopathology; D001927:Brain Diseases / Q000175:diagnosis / Q000503:physiopathology; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002883:Chromosomes, Human, Pair 14; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000503:physiopathology; D007621:Karyotyping; D010641:Phenotype; D011596:Psychomotor Disorders / Q000235:genetics*; D014057:Tomography, X-Ray Computed
Padaczka u dziecka z chromosomem pierścieniowym 14.