메뉴 건너뛰기




Volumn 50, Issue 12, 2008, Pages 953-955

Microduplication 22q11.2 in a child with autism spectrum disorder: Clinical and genetic study

Author keywords

[No Author keywords available]

Indexed keywords

ANTISOCIAL BEHAVIOR; ARTICLE; AUTISM; CASE REPORT; CHILD; CHILDHOOD AUTISM RATING SCALE; CHROMOSOME 22Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; FACE MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; LANGUAGE DISABILITY; MALE; MOTOR DYSFUNCTION; PRIORITY JOURNAL; RATING SCALE; SCORING SYSTEM;

EID: 56849099021     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2008.03048.x     Document Type: Article
Times cited : (27)

References (17)
  • 1
    • 0004235298 scopus 로고
    • American Psychiatric Association. 4th edn, revised. Washington, DC: American Psychiatric Association
    • American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 4th edn, revised. Washington, DC: American Psychiatric Association, 1994.
    • (1994) Diagnostic and Statistical Manual of Mental Disorders
  • 2
    • 0032790898 scopus 로고    scopus 로고
    • A common molecular basis for rearrangement disorders on chromosome 22q11
    • Edelmann L, Pandita RK, Spiteri E, et al. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 1999; 8: 1157-67.
    • (1999) Hum Mol Genet , vol.8 , pp. 1157-1167
    • Edelmann, L.1    Pandita, R.K.2    Spiteri, E.3
  • 3
  • 5
    • 0018854085 scopus 로고
    • Toward objective classification of childhood autism. Childhood Autism Rating Scale (CARS)
    • Schopler E, Reichler RJ, DeVellis RF, Daly K. Toward objective classification of childhood autism. Childhood Autism Rating Scale (CARS). J Autism Dev Discord 1980; 10: 91-103.
    • (1980) J Autism Dev Discord , vol.10 , pp. 91-103
    • Schopler, E.1    Reichler, R.J.2    DeVellis, R.F.3    Daly, K.4
  • 6
    • 0024369122 scopus 로고
    • Autism Diagnostic observation schedule: A standardized observation of communicative and social behavior
    • Lord C, Rutter M, Goode S, et al. Autism Diagnostic observation schedule: A standardized observation of communicative and social behavior. J Autism Dev Disord 1989; 19: 185-212.
    • (1989) J Autism Dev Disord , vol.19 , pp. 185-212
    • Lord, C.1    Rutter, M.2    Goode, S.3
  • 8
    • 56849098346 scopus 로고    scopus 로고
    • Individualized assessment and treatment for autistic and developmentally disabled children
    • Psychoeducational Profile-Revised. PRO-ED Inc Austin, Texas
    • Lansing MD, Marcus LM. Individualized assessment and treatment for autistic and developmentally disabled children vol 1 Psychoeducational Profile-Revised. PRO-ED Inc Austin, Texas.
    • , vol.1
    • Lansing, M.D.1    Marcus, L.M.2
  • 10
    • 33744462332 scopus 로고    scopus 로고
    • Genetics of autism spectrum disorder
    • Klauck SM. Genetics of autism spectrum disorder. Eur J Hum Genet 2006; 14: 714-20.
    • (2006) Eur J Hum Genet , vol.14 , pp. 714-720
    • Klauck, S.M.1
  • 11
    • 24144501508 scopus 로고    scopus 로고
    • Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder
    • Reddy KS. Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder. BMC Med Genet 2005; 6: 3.
    • (2005) BMC Med Genet , vol.6 , pp. 3
    • Reddy, K.S.1
  • 12
    • 33748426974 scopus 로고    scopus 로고
    • The 22q11.2 deletion in children: High rate of autistic disorders and early onset of psychotic symptoms
    • Vorstman JA, Morcus ME, Duijff SN, et al. The 22q11.2 deletion in children: High rate of autistic disorders and early onset of psychotic symptoms. J Am Acad Child Adolesc Psychiatry 2006; 45: 1104-13.
    • (2006) J Am Acad Child Adolesc Psychiatry , vol.45 , pp. 1104-1113
    • Vorstman, J.A.1    Morcus, M.E.2    Duijff, S.N.3
  • 13
    • 0242607574 scopus 로고    scopus 로고
    • Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients
    • Ensenauer RE, Adeyinka A, Flynn HC, et al. Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 2003; 73: 1027-40.
    • (2003) Am J Hum Genet , vol.73 , pp. 1027-1040
    • Ensenauer, R.E.1    Adeyinka, A.2    Flynn, H.C.3
  • 14
    • 33745597393 scopus 로고    scopus 로고
    • The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies
    • de La Rochebrochard C, Joly-Helas G, Goldenberg A, et al. The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies. Am J Med Genet A 2006; 140: 1608-13.
    • (2006) Am J Med Genet A , vol.140 , pp. 1608-1613
    • de La Rochebrochard, C.1    Joly-Helas, G.2    Goldenberg, A.3
  • 15
    • 0029945718 scopus 로고    scopus 로고
    • Genetic analysis of genealogies in mentally retarded autistic probands from Saguenay Lac-Saint-Jean (Quebec, Canada)
    • De Braekeleer M, Tremblay M, Thivierge J. Genetic analysis of genealogies in mentally retarded autistic probands from Saguenay Lac-Saint-Jean (Quebec, Canada). Ann Genet 1996; 39: 47-50.
    • (1996) Ann Genet , vol.39 , pp. 47-50
    • De Braekeleer, M.1    Tremblay, M.2    Thivierge, J.3
  • 16
    • 0025318908 scopus 로고
    • The UCLA-University of Utah epidemiologic survey of autism: Genealogical analysis of familial aggregation
    • Jorde LB, Mason-Brothers A, Waldmann R, et al. The UCLA-University of Utah epidemiologic survey of autism: Genealogical analysis of familial aggregation. Am J Med Genet 1990; 36: 85-88.
    • (1990) Am J Med Genet , vol.36 , pp. 85-88
    • Jorde, L.B.1    Mason-Brothers, A.2    Waldmann, R.3
  • 17
    • 20244383760 scopus 로고    scopus 로고
    • Microduplication and triplication of 22q11.2: A highly variable syndrome
    • Yobb TM, Somerville MJ, Willatt L, et al. Microduplication and triplication of 22q11.2: A highly variable syndrome. Am J Hum Genet 2005; 76: 865-76.
    • (2005) Am J Hum Genet , vol.76 , pp. 865-876
    • Yobb, T.M.1    Somerville, M.J.2    Willatt, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.