Autism or atypical autism in maternally but not paternally derived proximal 15q duplication

American Journal of Human Genetics

Volumn 60, Issue 4, 1997, Pages 928-934

  Cook Jr , Edwin H ^a,d   Lindgren, Valerie ^a   Leventhal, Bennett L ^a   Courchesne, Rachel ^b   Lincoln, Alan ^b   Shulman, Cory ^a   Lord, Catherine ^a   Courchesne, Eric ^b,c  

^a UNIVERSITY OF CHICAGO   (United States)

^b RADY CHILDREN'S HOSPITAL   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d MC 3077 ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTISM; CHROMOSOME 15Q; CHROMOSOME DUPLICATION; CYTOGENETICS; EXTRACHROMOSOMAL INHERITANCE; FEMALE; HUMAN; HUMAN CELL; MALE; PEDIGREE; PRIORITY JOURNAL; SCHOOL CHILD;

ANEUPLOIDY; AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 15; DNA METHYLATION; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTERVIEWS; MALE; MICROSATELLITE REPEATS; MOTHERS; PEDIGREE;

EID: 16944364326     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (31)

1. American Psychiatric Association (1994) Diagnostic and statistical manual of mental disorders, 4th ed. American Psychiatric Association, Washington, DC
2. Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E, Rutter M (1995) Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 25:63-78
3. Baker P, Piven J, Schwartz S, Patil S (1994) Duplication of chromosome 15q11-13 in two individuals with autistic disorder. J Autism Dev Disord 24:529-535
4. Bryson S, Clark B, Smith T (1988) First report of a Canadian epidemiological study of autistic syndromes. J Child Psychol Psychiatry 29:433-445
5. Bundey S, Hardy C, Vickers S, Kilpatrick M, Corbett J (1994) Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia. Dev Med Child Neurol 36:736-742
6. Callen D, Eyre H, Yip M-Y, Freemantle J, Haan E (1992) Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes. Am J Med Genet 43:709-715
7. Dunn L, Dunn L (1981) Peabody picture vocabulary test - revised. American Guidance Service, Circle Pines, MN
8. Flejter WL, Bennett-Baker 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
9. Folstein S, Rutter M (1977) Infantile autism: a genetic study of 21 twin pairs. J Child Psychol Psychiatry 18:297-321
10. Gillberg C, Steffenburg S, Wahlström J, Gillberg I, Sjöstedt A, Martinsson T, Liedgren S, et al (1991) Autism associated with marker chromosome. J Am Acad Child Adolesc Psychiatry 30:489-494
11. Glatt K, Sinnett D, Lalande M (1994) The human gamma-aminobutyric acid receptor subunit β3 and α5 gene cluster in chromosome 15q11-q13 is rich in highly polymorphic (CA)n repeats. Genomics 19:157-160
12. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, et al (1994) The 1993-94 Généthon human genetic linkage map. Nat Genet 7:246-339
13. Hirsch B, Heggie P, McConnell K (1995) Inherited direct duplication of 15q11→15q12 including loci D15S11→ GABRB3 in a child with autism. Am J Hum Genet Suppl 57:A116
14. Hotof M, Bolton P (1995) A case of autism associated with partial tetrasomy 15. J Autism Dev Disord 25:41-49
15. Hudson T, Engelstein M, Lee M, Ho E, Rubenfield M, Adams C, Housman D, et al (1992) Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphisms. Genomics 13:622-629
16. Jorde LB, Hasstedt SJ, Ritvo ER, Mason-Brothers A, Freeman BJ, Pingree C, McMahon WM, et al (1991) Complex segregation analysis of autism. Am J Hum Genet 49:932-938
17. Leana-Cox J, Jenkins L, Palmer CG, Plattner R, Sheppard L, Flejter WL, Zackowski J, et al (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
18. Lord C, Rutter M, Goode S, Heemsbergen J, Jordan H, Mawhood L, Schopler E (1989) Autism diagnostic observation schedule: a standardized observation of communicative and social behavior. J Autism Dev Disord 19:185-212
19. Lord C, Rutter M, Le Couteur A (1994) Autism diagnostic interview - revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 24:659-685
20. Mignon C, Malzac P, Moncla A, Depetris D, Roeckel N, Croquette MF, Mattei MG (1996) Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect. Eur J Hum Genet 4:88-100
21. Pickles A, Bolton P, Macdonald H, Bailey A, Le Couteur A, Sim C-H, Rutter M (1995) Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism. Am J Hum Genet 57:717-726
22. Piven J, Chase GA, Landa R, Wzorek M, Gayle J, Cloud D, Folstein S (1991) Psychiatric disorders in the parents of autistic individuals. J Am Acad Child Adolesc Psychiatry 30: 471-478
23. Raven J (1993) Coloured progressive matrices - sets a, ab, b. Oxford Psychologists, Oxford
24. Ritvo E, Jorde L, Mason-Brothers A, Freeman B, Pingree C, Jones M, McMahon W, et al (1989) The UCLA-University of Utah epidemiologic survey of autism: recurrence risk estimates and genetic counseling. Am J Psychiatry 146:1032-1036
25. Robinson W, Binkert F, Giné R, Vazquez C, Müller W, Rosenkranz W, Schinzel A (1993) Clinical and molecular analysis of five inv dup(15) patients. Eur J Hum Genet 1:37-50
26. Schinzel AA, Brecevic L, Bernasconi F, Binkert F, Berthet F, Wuilloud A, Robinson WP (1994) Intrachromosomal triplication of 15q11-q13. J Med Genet 31:798-803
27. Sheffield VC, Weber JL, Buetow KH, Murray JC, Even DA, Wiles K, Gastier JM, et al (1995) A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. Hum Mol Genet 4:1837-1844
28. Smalley SL, McCracken J, Tanguay P (1995) Autism, affective disorders, and social phobia. Am J Med Genet 60:19-26
29. Sparrow S, Balla D, Cicchetti D (1984) Vineland scales of adaptive behavior, survey form manual. American Guidance Service, Circle Pines, MN
30. Steffenburg S, Gillberg CL, Steffenburg U, Kyllerman M (1996) Autism in Angelman syndrome: a population-based study. Pediatr Neurol 14:131-136
31. Stergianon K, Gould C, Waters J, Hultén M (1992) High population incidence of the 15p marker D15Z1 mapping to the short arm of one homologue 14. Hum Genet 88:364