논문KCI 등재
Isodicentric Chromosome 15 Syndrome in a Korean Patient With Café-au-lait Spots
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2015.07|Annals of Laboratory Medicine|제35권 제4호|pp. 474-476
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참고문헌 (10)
- Battaglia A., "The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)", Orphanet J Rare Dis, 3, pp.30~ (2008)
- HeeYeonWoo, "Marker Chromosomes in Korean Patients: Incidence, Identification and Diagnostic Approach", Journal of Korean Medical Science, 18(6), pp.773~778 (2003), 대한의학회
- 김존수, "A case of isodicentric chromosome 15 presented with epilepsy and developmental delay", Korean Journal of Pediatrics, 55(12), pp.487~490 (2012), 대한소아과학회
- 박덕호, "A Nine-Month-Old Boy With Isodicentric Chromosome 15: A Case Report", Annals of Rehabilitation Medicine, 37(2), pp.291~294 (2013), 대한재활의학회
- Conant KD, "A survey of seizures and current treatments in 15q duplication syndrome", Epilepsia, 55, pp.396~402 (2014)
- Rineer S, "Autistic symptoms among children and young adults with isodicentric chromosome 15", Am J Med Genet, 81, pp.428~433 (1998)
- Simic M, "Autistic spectrum disorder associated with partial duplication of chromosome 15; three case reports", Eur Child Adolesc Psychiatry, 13, pp.389~393 (2004)
- Shah KN, "The diagnostic and clinical significance of café-au-lait macules", Pediatr Clin North Am, 57, pp.1131~1153 (2010)
- Nyström AM, "A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins", Acta Paediatr, 98, pp.693~698 (2009)
- Rosado LAM, "The inv dup (15)or idic (15) syndrome: a case report", Rev Cubana Genet Comunit, 6, pp.61~63 (2012)
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