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Volumn 154, Issue 4, 2010, Pages 448-455

The behavioral phenotype of the idic(15) syndrome

Author keywords

ASD; Autism; Behavior phenotype; Idic (15) syndrome; Inv dup(15) syndrome; PDD; Supernumerary marker chromosome 15

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; LAMOTRIGINE; RUFINAMIDE; VALPROIC ACID;

EID: 78049388092     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30281     Document Type: Article
Times cited : (36)

References (38)
  • 1
    • 0004235298 scopus 로고
    • Diagnostic and Statistical Manual of Mental Disorders
    • American Psychiatric Association (APA). . Washington, DC: American Psychiatric Association.
    • American Psychiatric Association (APA). 1995. Diagnostic and Statistical Manual of Mental Disorders. Washington, DC: American Psychiatric Association. p. 67-80.
    • (1995) , pp. 67-80
  • 2
    • 22244476747 scopus 로고    scopus 로고
    • The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorder
    • Battaglia A. 2005. The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorder. Brain Dev 27:365-369.
    • (2005) Brain Dev , vol.27 , pp. 365-369
    • Battaglia, A.1
  • 3
    • 58149237890 scopus 로고    scopus 로고
    • The inv dup(15) or idic(15) syndrome (Tetrasomy 15q)
    • :. Available at: .
    • Battaglia A. 2008. The inv dup(15) or idic(15) syndrome (Tetrasomy 15q). Orphanet J Rare Dis 3:30. Available at
    • (2008) Orphanet J Rare Dis , vol.3 , pp. 30
    • Battaglia, A.1
  • 8
    • 0027994534 scopus 로고
    • Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients
    • Cheng SD, Spinner NB, Zackai EH, Knoll JH. 1994. Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Am J Hum Genet 55:753-759.
    • (1994) Am J Hum Genet , vol.55 , pp. 753-759
    • Cheng, S.D.1    Spinner, N.B.2    Zackai, E.H.3    Knoll, J.H.4
  • 9
    • 0032971379 scopus 로고    scopus 로고
    • Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13)
    • Christian SL, Fantes JA, Mewborn SK, Huang B, Ledbetter D. 1999. Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13). Hum Mol Genet 8:1025-1037.
    • (1999) Hum Mol Genet , vol.8 , pp. 1025-1037
    • Christian, S.L.1    Fantes, J.A.2    Mewborn, S.K.3    Huang, B.4    Ledbetter, D.5
  • 10
    • 0028821373 scopus 로고
    • Supernumerary marker 15 chromosomes: A clinical, molecular and FISH approach to diagnosis and prognosis
    • Crolla JA, Harvey JF, Sitch FL, Dennis NR. 1995. Supernumerary marker 15 chromosomes: A clinical, molecular and FISH approach to diagnosis and prognosis. Hum Genet 95:161-170.
    • (1995) Hum Genet , vol.95 , pp. 161-170
    • Crolla, J.A.1    Harvey, J.F.2    Sitch, F.L.3    Dennis, N.R.4
  • 11
    • 13544262673 scopus 로고    scopus 로고
    • Supernumerary marker chromosomes in man: Parental origin, mosaicism and maternal age revisited
    • Crolla JA, Youings SA, Ennis S, Jacobs PA. 2005. Supernumerary marker chromosomes in man: Parental origin, mosaicism and maternal age revisited. Eur J Hum Genet 13:154-160.
    • (2005) Eur J Hum Genet , vol.13 , pp. 154-160
    • Crolla, J.A.1    Youings, S.A.2    Ennis, S.3    Jacobs, P.A.4
  • 12
    • 33644861103 scopus 로고    scopus 로고
    • Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13
    • Dennis NR, Veltman MWM, Thompson R, Craig E, Bolton PF, Thomas NS. 2006. Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13. Am J Med Genet Part A 140A:434-441.
    • (2006) Am J Med Genet Part A , vol.140 A , pp. 434-441
    • Dennis, N.R.1    Veltman, M.W.M.2    Thompson, R.3    Craig, E.4    Bolton, P.F.5    Thomas, N.S.6
  • 13
    • 0030070898 scopus 로고    scopus 로고
    • Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation
    • Flejter WL, Bennet-Barker PE, Ghaziuddin M, McDonald M, Sheldon S, Gorski JL. 1996. Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation. Am J Med Genet 61:182-187.
    • (1996) Am J Med Genet , vol.61 , pp. 182-187
    • Flejter, W.L.1    Bennet-Barker, P.E.2    Ghaziuddin, M.3    McDonald, M.4    Sheldon, S.5    Gorski, J.L.6
  • 15
    • 0003443798 scopus 로고
    • The Gilliam Autism Rating Scale
    • Austin, TX: Pro-Ed.
    • Gilliam J. 1995. The Gilliam Autism Rating Scale. Austin, TX: Pro-Ed. pp. 1-31.
    • (1995) , pp. 1-31
    • Gilliam, J.1
  • 16
    • 0031886935 scopus 로고    scopus 로고
    • Unusual features in children with inv dup(15) supernumerary marker: A study of genotype-phenotype correlation in Taiwan
    • Hou JW, Wang TR. 1998. Unusual features in children with inv dup(15) supernumerary marker: A study of genotype-phenotype correlation in Taiwan. Eur J Pediatr 157:122-127.
    • (1998) Eur J Pediatr , vol.157 , pp. 122-127
    • Hou, J.W.1    Wang, T.R.2
  • 18
    • 0030458551 scopus 로고    scopus 로고
    • Parental imprinting and human disease
    • Lalande M. 1996. Parental imprinting and human disease. Ann Rev Genet 30:173-195.
    • (1996) Ann Rev Genet , vol.30 , pp. 173-195
    • Lalande, M.1
  • 19
    • 0028205957 scopus 로고
    • Molecular cytogenetic analysis of inv dup (15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: Clinical implications
    • Leana-Cox J, Jenkins L, Palmer CG, Plattner R, Sheppard L, Flejter WL, Zackowski J, Tsien F, Schwartz S. 1994. Molecular cytogenetic analysis of inv dup (15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: Clinical implications. Am J Hum Genet 54:748-756.
    • (1994) Am J Hum Genet , vol.54 , pp. 748-756
    • Leana-Cox, J.1    Jenkins, L.2    Palmer, C.G.3    Plattner, R.4    Sheppard, L.5    Flejter, W.L.6    Zackowski, J.7    Tsien, F.8    Schwartz, S.9
  • 20
    • 33644853669 scopus 로고    scopus 로고
    • Healthy 12-year-old boy with mosaic inv dup(15)(q13)
    • Loitzsch A, Bartsch O. 2006. Healthy 12-year-old boy with mosaic inv dup(15)(q13). Am J Med Genet Part A 140A:640-643.
    • (2006) Am J Med Genet Part A , vol.140 A , pp. 640-643
    • Loitzsch, A.1    Bartsch, O.2
  • 21
    • 0027997172 scopus 로고
    • Autism diagnostic review revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
    • Lord C, Rutter M, LeCouter A. 1994. Autism diagnostic review revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 24:659-685.
    • (1994) J Autism Dev Disord , vol.24 , pp. 659-685
    • Lord, C.1    Rutter, M.2    LeCouter, A.3
  • 22
    • 0003428096 scopus 로고    scopus 로고
    • Autism Diagnostic Observation Schedule
    • Los Angeles: Western Psychological Services.
    • Lord C, Rutter M, DiLavore PC, Risi S. 2002. Autism Diagnostic Observation Schedule. Los Angeles: Western Psychological Services.
    • (2002)
    • Lord, C.1    Rutter, M.2    DiLavore, P.C.3    Risi, S.4
  • 23
    • 0028275961 scopus 로고
    • Two Prader-Willi/Angelman syndrome loci present in an isodicentric marker chromosome
    • Luke S, Verma RS, Giridharan R, Conte RA, Macera MJ. 1994. Two Prader-Willi/Angelman syndrome loci present in an isodicentric marker chromosome. Am J Med Genet 51:232-233.
    • (1994) Am J Med Genet , vol.51 , pp. 232-233
    • Luke, S.1    Verma, R.S.2    Giridharan, R.3    Conte, R.A.4    Macera, M.J.5
  • 24
    • 39549087017 scopus 로고    scopus 로고
    • Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes
    • Makoff AJ, Flomen RH. 2007. Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes. Genome Biol 8:R114.
    • (2007) Genome Biol , vol.8
    • Makoff, A.J.1    Flomen, R.H.2
  • 26
    • 0031660251 scopus 로고    scopus 로고
    • Autistic symptoms among children and young adults with isodicentric chromosome 15
    • Rineer S, Finucane B, Simon EW. 1998. Autistic symptoms among children and young adults with isodicentric chromosome 15. Am J Med Genet 81:428-433.
    • (1998) Am J Med Genet , vol.81 , pp. 428-433
    • Rineer, S.1    Finucane, B.2    Simon, E.W.3
  • 27
    • 0242607218 scopus 로고    scopus 로고
    • Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity
    • Roberts SE, Maggouta F, Thomas NS, Jacobs PA, Crolla JA. 2003. Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity. Am J Hum Genet 73:1061-1072.
    • (2003) Am J Hum Genet , vol.73 , pp. 1061-1072
    • Roberts, S.E.1    Maggouta, F.2    Thomas, N.S.3    Jacobs, P.A.4    Crolla, J.A.5
  • 29
    • 34548572838 scopus 로고    scopus 로고
    • Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy
    • Saitoh S, Hosoki K, Takano K, Tonoki H. 2007. Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy. Clin Genet 72:378-380.
    • (2007) Clin Genet , vol.72 , pp. 378-380
    • Saitoh, S.1    Hosoki, K.2    Takano, K.3    Tonoki, H.4
  • 31
    • 0025181457 scopus 로고
    • Autistic disorder and additional inv dup(15)(pter-q13) chromosome
    • Schinzel A. 1990. Autistic disorder and additional inv dup(15)(pter-q13) chromosome. Am J Med Genet 35:447-448.
    • (1990) Am J Med Genet , vol.35 , pp. 447-448
    • Schinzel, A.1
  • 32
    • 0034802367 scopus 로고    scopus 로고
    • Chromosome imbalances associated with epilepsy
    • Schinzel A, Niedrist D. 2001. Chromosome imbalances associated with epilepsy. Am J Med Genet 106:119-124.
    • (2001) Am J Med Genet , vol.106 , pp. 119-124
    • Schinzel, A.1    Niedrist, D.2
  • 33
    • 0003895711 scopus 로고
    • Vineland Adaptive Behavior Scales
    • Circle Pines, MN: American Guidance Service.
    • Sparrow SS, Balla DA, Cicchetti DV. 1984. Vineland Adaptive Behavior Scales. Circle Pines, MN: American Guidance Service.
    • (1984)
    • Sparrow, S.S.1    Balla, D.A.2    Cicchetti, D.V.3
  • 34
    • 3242710286 scopus 로고    scopus 로고
    • High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage
    • Wang NJ, Liu D, Parokonny AS, Schanen NC. 2004. High-resolution molecular characterization of 15q11-q13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage. Am J Hum Genet 75:267-281.
    • (2004) Am J Hum Genet , vol.75 , pp. 267-281
    • Wang, N.J.1    Liu, D.2    Parokonny, A.S.3    Schanen, N.C.4
  • 36
    • 0028128302 scopus 로고
    • Inv dup (15) supernumerary marker chromosomes
    • Webb T. 1994. Inv dup (15) supernumerary marker chromosomes. J Med Genet 31:585-594.
    • (1994) J Med Genet , vol.31 , pp. 585-594
    • Webb, T.1
  • 37
    • 0031881661 scopus 로고    scopus 로고
    • A clinical, cytogenetic and molecular study of ten probands with inv dup (15) marker chromosomes
    • Webb T, Hardy CA, King M, Watkiss E, Mitchell C, Cole T. 1998. A clinical, cytogenetic and molecular study of ten probands with inv dup (15) marker chromosomes. Clin Genet 53:34-43.
    • (1998) Clin Genet , vol.53 , pp. 34-43
    • Webb, T.1    Hardy, C.A.2    King, M.3    Watkiss, E.4    Mitchell, C.5    Cole, T.6


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