Open AccessJournal Article
Ring chromosome 14 syndrome.
TLDR
A ring chromosome 14 with breakpoints at 14p11 and 14q31 and positive C- and Ag NOR-banding is reported in a 12.5 years old deeply mentally retarded female with minor dysmorphic syndrome.Abstract:
A ring chromosome 14 with breakpoints at 14p11 and 14q31 and positive C- and Ag NOR-banding is reported in a 12.5 years old deeply mentally retarded female with minor dysmorphic syndrome.read more
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Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters.
Rita Singh,R. J McKinlay Gardner,Kathryn M. Crossland,Ingrid E. Scheffer,Ingrid E. Scheffer,Ingrid E. Scheffer,Samuel F. Berkovic,Samuel F. Berkovic +7 more
TL;DR: This work analyzed databases on chromosomal anomalies and epilepsy to identify chromosomal regions where abnormalities are associated with clinically recognizable epilepsy syndromes and hoped that these regions could then be offered as targets in the search for epilepsy genes.
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Clinical review of genetic epileptic encephalopathies
TL;DR: The more common causes of infantile epileptic encephalopathy, channelopathies, syndromic, metabolic, and chromosomal entities are overviewed and effective treatment strategies that should be considered.
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Epilepsy and chromosomal abnormalities
Giovanni Sorge,Anna Sorge +1 more
TL;DR: A better characterization of the electro clinical patterns associated with specific chromosomal aberrations could give a valuable key in the identification of epilepsy susceptibility of some chromosomal loci, using the new advances in molecular cytogenetics techniques.
Journal ArticleDOI
Molecular analysis redefines three human chromosome 14 deletions.
TL;DR: A panel of 13 DNA markers in the distal region of chromosome 14q is used to characterize deletions in three patients determined cytogenetically to have a ring or terminally deleted chromosome 14, which represents the smallest region of distal monosomy 14q yet reported.
Journal ArticleDOI
Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum
TL;DR: A Japanese male with mosaicism of ring chromosomes 14 and chromosome 14 monosomy demonstrated the characteristic morphologic features of ring chromosome 14, in addition to mental retardation and epileptic seizures, which revealed a hypoplastic corpus callosum, previously unknown in association with this syndrome.