1p36 Deletion syndrome Presenting with Various Epileptic Semiologies
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
1p36 deletion syndrome is the most common telomeric microdeletion syndrome. It is related to various clinical features including neurodevelopmental impairment, seizure, growth retardation, and heart defects. It is also known to have several morphologic features, including deep-set eyes, flat nasal bridge, straight eyebrows and pointed chin. Seizure is common in 1p36 deletion syndrome and its type and natural course is variable. Control of seizure with antiepileptic drugs is variable; however, seizure improves with time in majority of cases. We report a patient presenting with various types of seizure, developmental delay, and morphological abnormality. The patient developed complex partial seizure, infantile spasm, and myoclonic seizure, at the age of 1, 4, and 12 months, respectively. The patient was diagnosed as 1p36 deletion syndrome using array comparative genomic hybridization. At the age of 15 months, seizure disappeared and development began to progress.
Abstract
1p36 deletion syndrome is the most common telomeric microdeletion syndrome. It is related to various clinical features including neurodevelopmental impairment, seizure, growth retardation, and heart defects. It is also known to have several morphologic features, including deep-set eyes, flat nasal bridge, straight eyebrows and pointed chin. Seizure is common in 1p36 deletion syndrome and its type and natural course is variable. Control of seizure with antiepileptic drugs is variable; however, seizure improves with time in majority of cases. We report a patient presenting with various types of seizure, developmental delay, and morphological abnormality. The patient developed complex partial seizure, infantile spasm, and myoclonic seizure, at the age of 1, 4, and 12 months, respectively. The patient was diagnosed as 1p36 deletion syndrome using array comparative genomic hybridization. At the age of 15 months, seizure disappeared and development began to progress.
참고문헌 (15)
- Brazil A, "Delineating the phenotype of 1p36 deletion in adolescents and adults", Am J Med Genet A, 164A, pp.2496~2503 (2014)
- Gajecka M, "Monosomy 1p36 deletion syndrome", Am J Med Genet C Semin Med Genet, 145C, pp.346~356 (2007)
- Biegel JA, "Constitutional 1p36 deletion in a child with neuroblastoma", Am J Hum Genet, 52, pp.176~182 (1993)
- Shapira SK, "Chromosome 1p36 deletions : the clinical phenotype and molecular characterization of a common newly delineated syndrome", Am J Hum Genet, 61, pp.642~650 (1997)
- Knight-Jones E, "Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3", Dev Med Child Neurol, 42, pp.201~206 (2000)
- Heilstedt HA, "Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome", Am J Hum Genet, 72, pp.1200~1212 (2003)
- Kanabar G, "Multiple causes of apnea in 1p36 deletion syndrome include seizures", Seizure, 21, pp.402~406 (2012)
- Battaglia A, "Further delineation of deletion 1p36syndrome in 60 patients : a recognizable phenotype and common cause of developmental delay and mental retardation", Pediatrics, 121, pp.404~410 (2008)
- Bahi-Buisson N, "Spectrum of epilepsy in terminal 1p36deletion syndrome", Epilepsia, 49, pp.509~515 (2008)
- Kurosawa K, "Epilepsy and neurological findings in 11individuals with 1p36 deletion syndrome", Brain Dev, 27, pp.378~382 (2005)
- Saito Y, "Polymicrogyria and infantile spasms in a patient with 1p36deletion syndrome", Brain Dev, 33, pp.437~441 (2011)
- Shaffer LG, "Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases", J pediatr, 149, pp.98~102 (2006)
- Heilstedt HA, "Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36deletion syndrome", Epilepsia, 42, pp.1103~1111 (2001)
- Windpassinger C, "The human gamma-aminobutyric acid A receptor delta(GABRD)gene : molecular characterisation and tissue-specific expression", Gene, 292, pp.25~31 (2002)
- Rosenfeld JA, "Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions", Am J Med Genet A, 152A, pp.1951~1959 (2010)