Ring-20-syndrome and loss of telomeric regions.
A patient aged 10 years and 8 months with a ring-20-syndrome was studied. Clinically he presented normal psychomotor development until 25 months of age when he began with right simple partial motor seizures. He presented minimal dysmorphism, generalized tonic-clonic seizures refractory to medical therapy and behavioral troubles. He was submitted to a callosotomy when he presented an electric status, subsequently, he was treated with anticonvulsivants and felbamate and the seizures were controlled. The karyotype showed a chromosomal complement 46,XY,r(20)(p13q13.3) with loss of the telomeric regions evidenced by FISH. The mother had normal karyotype. The clinical and cytogenetic features of previous cases described in the literature were compared leading to a better characterization of this syndrome.
García-Cruz
D
D
Division de Genética, Centro de Investigación Biomédica de Occidente, CMNO, IMSS, Guadalajara, Jalisco, Mexico. josanco@prodigy.net.mx
Vásquez
A I
AI
Perez-Rulfo
D
D
Dávalos
N O
NO
Peñaloza
J
J
García-Ortiz
J E
JE
Patiño-García
B
B
Sánchez-Corona
J
J
D000927:Anticonvulsants / Q000627:therapeutic use; D002648:Child; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20; D004827:Epilepsy / Q000188:drug therapy / Q000235:genetics*; D000078328:Felbamate; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D001523:Mental Disorders / Q000235:genetics*; D018696:Neuroprotective Agents / Q000627:therapeutic use; D048448:Phenylcarbamates; D011409:Propylene Glycols / Q000627:therapeutic use; D012303:Ring Chromosomes; D013577:Syndrome; D016615:Telomere / Q000235:genetics*
D000927:Anticonvulsants; D018696:Neuroprotective Agents; D048448:Phenylcarbamates; D011409:Propylene Glycols; D000078328:Felbamate