Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
권호 표지

A Case of Ring Chromosome 20 with Mental Retardation and Epilepsy

정신 지체와 간질을 동반한 20 환(Ring) 염색체 증후군 1례

  • Jung, Yeon Kyung (Department of Pediatrics, School of Medicine, Catholic University of Daegu) ;
  • Lee, Gyeong Hoon (Department of Pediatrics, School of Medicine, Catholic University of Daegu)
  • 정연경 (대구가톨릭대학교 의과대학 소아과학교실) ;
  • 이경훈 (대구가톨릭대학교 의과대학 소아과학교실)
  • Received : 2004.09.14
  • Accepted : 2004.10.12
  • Published : 2005.01.15
Download PDF
⟨ Previous Next ⟩

Abstract

Ring chromosome 20 mosaicism [r(20)] is a rare chromosomal anomaly associated with minor dysmorphism, mental retardation, autistic behavior, and intractable epilepsy. The proposed mechanism of ring formation is breakage of both short and long arms of a chromosome with subsequent end-to-end fusion. We encountered an 18-month-old boy who presented with developmental delay and mental retardation with seizure episodes, but showed normal brain magnetic resonance imaging. Chromosome study from peripheral blood showed 46,XY, r(20)(p13q13.3) karyotype. The authors report a case of ring chromosome 20 with mental retardation and epilepsy, with a review of the literature.

20 환 염색체는 경한 외관상 기형, 정신 지체, 행동 장애, 난치성 간질을 동반하는 드문 염색체 이상 증후군이다. 저자들은 본원 소아과에 언어 발달 지연과 성장 발육 부전을 주소로 내원한 18개월 된 환자에서 말초혈액 염색체 및 FISH 검사를 통해 20 환 염색체 증후군으로 판명하였고 특징적인 난치성 간질 발작을 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

Keywords

References

  1. Gardner RJM, Sutnerland GR. Chromosome abnormalities and genetic counseling. 2nd ed. Oxford university Press, Inc 1996;10:177-80
  2. Borgaonkar DS, Lacasste YR, Stoli O. Usefulness of chromosome catalog in delineating new syndromes. Birth Defects 1976;12:87-95
  3. Garcia DM, Ortiz R, Gomez A, Barriuso E. Ring 20 chromosome syndrome with epilepsy and dysmorphic features : a case report. Epilepsia 2001;42:1607-10. https://doi.org/10.1046/j.1528-1157.2001.29700.x
  4. Serrano-Castro PJ, Aguilar-Castillo MJ, Olivares-Romero J, Jimenez-Machado R, Molina-Aparicio MJ. Ring chromosome 20 : an epileptic channel disorder? Rev Neurol 2001;32: 237-41
  5. Stewart JM, Cavanagh N, Hughes DT. Ring 20 chromosome in a child with seizures, minor anomalies, and retardation. Arch Dis Child 1979;54:477-9 https://doi.org/10.1136/adc.54.6.477
  6. Roubertie A, Petit J, Genton P. Ring chromosome 20 : an identifiable epileptic syndrome. Rev Neurol(Paris) 2000;156: 149-53
  7. Holopainen I, Penttinen M, Lakkala T, Aarimaa T. Ring chromosome 20 mosaicism in a girl with complex partial seizure. Dev Med Child Neurol 1994;36:70-3 https://doi.org/10.1111/j.1469-8749.1994.tb11768.x
  8. Augustijn PB, Parra J, Wouters CH, Joosten P, Lindhout D, van Emde Boas W. Ring chromosome 20 epilepsy syndrome in children: electroclinical features. Neurology 2001; 57:1108-11
  9. Kobayashi K, Inagaki M, Sasaki M, Sugai K, Ohta S, Hashimoto T. Characteristic EEG findings in ring 20 syndrome as a diagnostic clue. Electroencephalogr Clin Neurophysiol 1998;107:258-62 https://doi.org/10.1016/S0013-4694(98)00069-8
  10. Petit J, Roubertie A, Inoue Y, Genton P. Non-convulsive status in the ring chromosome 20 syndrome : a video illustration of 3 cases. Epileptic Disord 1999;1:237-41
  11. Pezzolo A, Gimelli G, Cohen A, Lavaggetto A, Romano C, Fogu G, et al. Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability. Hum Genet 1993;92:23-7 https://doi.org/10.1007/BF00216140
  12. Inoue Y, Fujiwara T, Matsuda K, Kubota H, Tanaka M, Yagi K, et al. Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome. Brain 1997;120: 939-53 https://doi.org/10.1093/brain/120.6.939
  13. Singh R, Gardner RJ, Crossland KM, Scheffer IE, Berkovic SF. Chromosomal abnormalities and Epilepsy : a review for clinicians and gene hunters. Epilepsia 2002;43:127-40. https://doi.org/10.1046/j.1528-1157.2002.19498.x
  14. Gomes Mda M, Lucca I, Bezerra SA, Llerena J Jr, Moreira DM. Epilepsy and ring chromosome 20 : case report. Arq Neuropsiquiatr 2002;60:631-5 https://doi.org/10.1590/S0004-282X2002000400022
  15. Burnell RH, Stern LM, Sutherland GR. A case of ring 20 chromosome with cardiac and renal anomalies. Aust Paediatr J 1985;21:285-6
  16. Chawla J, Sucholeiki R, Jones C, Silver K. Intractable epilepsy with ring chromosome 20 syndrome treated with vagal nerve stimulation : case report and review of the literature. J Child Neurol 2002;17:778-80 https://doi.org/10.1177/08830738020170101805
  17. Garcia-Cruz D, Vasquez Al, Perez-Rulfo D, Davalos NO, Penaloza J, Garcia-Oritz JE, et al. Ring-20-syndrome and loss of telomeric regions. Ann Genet 2000;43:113-6 https://doi.org/10.1016/S0003-3995(00)01027-3