[The ring chromosome 14 syndrome].
Two children with ring chromosome 14 are described. Both children have only few phenotypical features suggestive of a chromosome abnormality. Both have, however, epilepsy which is typical for the ring chromosome 14 syndrome. Chromosome examination is recommended in children with mental retardation and epilepsy which is refractory to treatment.
Kristensen
I
I
Børneafdelingen, Herning Centralsygehus.
Wieg
C
C
Friedrich
U K
UK
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002883:Chromosomes, Human, Pair 14; D004827:Epilepsy / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D012303:Ring Chromosomes; D013577:Syndrome
Ringkromosom 14 syndrom.