Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum

Pediatric Neurology

Volumn 20, Issue 1, 1999, Pages 70-72

  Ono, Jiro ^a   Nishiike, Kazuhiko ^b   Imai, Katsumi ^a   Otani, Kazumasa ^c   Okada, Shintaro ^a  

^a OSAKA UNIVERSITY MEDICAL SCHOOL   (Japan)

^b Aizenbashi Hospital   (Japan)

^c Otani Clinic   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; HEXAMETHYLPROPYLENE AMINE OXIME TECHNETIUM TC 99M; PHENOBARBITAL;

ARTICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM MALFORMATION; CHROMOSOME 14; COMPLEX PARTIAL SEIZURE; CORPUS CALLOSUM; ELECTROENCEPHALOGRAM; HUMAN; HYPOPLASIA; INFANT; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RING CHROMOSOME; SEIZURE; SINGLE PHOTON EMISSION COMPUTER TOMOGRAPHY;

ATROPHY; BRAIN; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 14; CORPUS CALLOSUM; EPILEPSY, COMPLEX PARTIAL; HUMANS; JAPAN; KARYOTYPING; MALE; MENTAL RETARDATION; MOSAICISM; RING CHROMOSOMES;

EID: 0032958516     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(98)00099-X     Document Type: Article

References (15)

1. Gilgenkranz S., Cabrol C., Laesecker C., Hartleyb M.E., Bohe B. Le syndrome Dr. Etude d'un nouveau cas (46, XX, 14r). Ann Genet. 14:1971;23-31.
2. Matalon R., Supple P., Wyandt H., Rosenthal I.M. Transmission of ring 14 chromosome from mother to sons. Am J Med Genet. 36:1990;381-385.
3. Zelante L., Torricelli F., Calvano S., Mingarelli R., Dallapiccola B. Ring chromosome 14 syndrome Report of two cases, including extended evaluation of a previously reported patient and review . Ann Genet. 34:1991;93-97.
4. Shirasaka Y., Ito M., Okuno T., Fujii T., Nozaki K., Mikawa H. Ring 14 chromosome with complex partial seizures A case report . Brain Dev. 14:1992;257-260.
5. Fryns J.P., Kubien E., Kleczkowska A., Nawrocka-Kanska B., Van den Berghe H. Ring chromosome 14 A distinct clinical entity . J Genet Hum. 31:1983;367-375.
6. Yen F.S., Podruch P.E., Weisskopf B. A terminal deletion (14) (q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation. J Med Genet. 26:1989;130-133.
7. Wintle R.F., Costa T., Haslam R.H.A., Teshima I.E., Cox D.W. Molecular analysis redefines three human chromosome 14 deletions. Hum Genet. 95:1995;495-500.
8. Lippe B.M., Sparkes R.S. Ring 14 chromosome Association with seizures . Am J Med Genet. 9:1981;301-305.
9. Riley S.B., Buckton K.E., Ratcliffe S.G., Syme J. Inheritance of a ring 14 chromosome. J Med Genet. 18:1981;209-213.
10. Schmidt R., Eviatar L., Nitowsky H.M., Wong M., Miranda S. Ring chromosome 14 A distinct clinical entity . J Med Genet. 18:1981;304-320.
11. Amarose A.P., Dorus E., Huttenlocher P.R., Csaszar S. A ring 14 chromosome with deleted short arm. Hum Genet. 54:1980;145-147.
12. Howard P.J., Clark D., Dearlove J. Retinal/macular pigmentation in conjunction with ring 14 chromosome. Hum Genet. 80:1988;140-142.
13. Rethore M.O., Caille B., de Barochez Y.H., de Blois M.C., Ravel A., Lejeune J. Chromosome 14 en anneau II Une observation de r(14) en mosaique le phenotype r(14) . Ann Genet. 27:1984;91-95.
14. Truwit C.L., Barkovich A.J. Pathogenesis of intracranial lipoma An MR study in 42 patients . AJNR. 11:1990;665-674.
15. Benger J.C., Teshima I., Walter M.A., Brubacher M.G., Daouk G.H., Cox D.W. Localization and genetic linkage of the human immunoglobulin heavy chain genes and the creatine kinase brain (CKB) gene Identification of a hot spot for recombination . Genomics. 9:1991;614-622.