Screening of subtelomeric rearrangements in autistic disorder: Identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 141, Issue 6, 2006, Pages 584-590

  Di Bella, Maria Antonietta ^a   Calì, Francesco ^a,b   Seidita, Gregorio ^a   Mirisola, Mario ^a   Ragusa, Angela ^c   Ragalmuto, Alda ^b   Galesi, Ornella ^b   Elia, Maurizio ^a,b   Greco, Donatella ^b   Zingale, Marinella ^b   Gambino, Giovanna ^d   D'Anna, Rosalba P ^a   Regan, Regina ^e   Carbone, Maria Carmela ^a   Gallo, Alessia ^a   Romano, Valentino ^a,b  

^a UNIVERSITY OF PALERMO   (Italy)

^b OASI RESEARCH INSTITUTE IRCCS   (Italy)

^c UNIVERSITY OF CATANIA   (Italy)

^d Ospedale Aiuto Materno   (Italy)

^e UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Autism; Frontal bossing; Gene dosage

Indexed keywords

ACROCENTRIC CHROMOSOME; ADOLESCENT; ALLELE; ARTICLE; AUTISM; BASE PAIRING; CHILD; CHROMOSOME 13Q; CHROMOSOME 21P; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 13; CONTROLLED STUDY; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRONTAL BOSSING; GENE DOSAGE; GENE EXPRESSION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SUBTELOMERIC REARRANGEMENT; TELOMERE; TRISOMY 13;

ADOLESCENT; ADULT; AUTISTIC DISORDER; CHILD; CHROMOSOMES, HUMAN, PAIR 13; FEMALE; GENE DOSAGE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; POLYMERASE CHAIN REACTION; TELOMERE; TRANSLOCATION, GENETIC; TRISOMY;

EID: 33748933035     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30328     Document Type: Article

References (46)

1. American Psychiatric Association [APA]. 2000. Diagnostic and statistical manual of mental disorders-TR, 4th edition. Washington DC: American Psychiatric Press.
2. Benson G. 1999. Tandem repeats finder: A program to analyze DNA sequences. Nucleic Acids Res 27:573-580.
3. Borg I, Squire M, Menzel C, Stout K, Morgan D, Willatt L, O'Brien PC, Ferguson-Smith MA, Ropers HH, Tommerup N, Kalscheuer VM, Sargan DR. 2002. A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation. J Med Genet 39:391-399.
4. Brunet O, Lézine I. 1966. Le Développement Psychologique de la Première Enfance, 2nd edition. Paris: Presses Universitaires de France.
5. Buckle VJ, Rack K. 1993. Fluorescence in situ hybridization. In: Davies K, editor. Human genetic disease analysis. A practical approach. Oxford: IRL Press, pp 59-80.
6. Castermans D, Wilquet V, Steyaert J, Van de Ven W, Fryns JP, Devriendt K. 2004. Chromosomal anomalies in individuals with autism: A strategy towards the identification of genes involved in autism. Autism 8:141-161.
7. Crino PB, Henske EP. 1999. New developments in the neurobiology of the tuberous sclerosis complex. Neurology 53:1384-1390.
8. Escobar JT, Sanchez O, Yunis JJ. 1974. Trisomy for the distal segment of chromosome 13: A new syndrome. Am J Dis Child 128:217-220.
9. Folstein SE, Rosen-Sheidley B. 2001. Genetics of autism: Complex aetiology for a heterogeneous disorder. Nat Rev Genet 9:943-955.
10. Font-Montgomery E, Weaver DD, Walsh L, Christensen C, Thurston VC. 2004. Clinical and cytogenetic manifestations of subtelomeric aberrations: Report of six cases. Birth Defects Res A Clin Mol Teratol 70:408-415.
11. Gillberg C. 1998. Chromosomal disorders and autism. J Autism Dev Disord 28:415-425.
12. Gillberg C, Forsell C. 1984. Childhood psychosis and neurofibromatosis - more than a coincidence? J Autism Dev Disord 14:1-8.
13. Griffiths R. 1986. The abilities of babies-revised. London: The Test Agency.
14. Herault J, Petit E, Martineau J, Perrot A, Lenoir P, Cherpi C, Barthelemy C, Sauvage D, Mallet J, Muh JP. 1995. Autism and genetics: Clinical approach and association study with two markers of HRAS gene. Am J Med Genet 60:276-281.
15. Ishikawa-Brush Y, Powell JF, Bolton P, Miller AP, Francis F, Willard HF, Lehrach H, Monaco AP. 1997. Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3′ to the SDC2 gene. Hum Mol Genet 6:1241-1250.
16. Keller K, Williams C, Wharton P, Paulk M, Bent-Williams A, Gray B, Ward A, Stalker H, Wallace M, Carter R, Zori R. 2003. Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders. Am J Med Genet Part A 117A:105-111.
17. Konstantareas MM, Homatidis S. 1999. Chromosomal abnormalities in a series of children with autistic disorder. J Autism Dev Disord 29:275-285.
18. Lauritsen M, Mors O, Mortensen PB, Ewald H. 1999. Infantile autism and associated autosomal chomosome abnormalities: A register-based study and a literature survey. J Child Psichol Psychiat 40:335-345.
19. Leiter RG. 1979. Leiter International Performance Scale. Chicago: Stoelting.
20. 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.
21. Lord C, Risi S, Lambrecht L, Cook EH Jr, Leventhal BL, DiLavore PC, Pickles A, Rutter M. 2000. The autism diagnostic observation schedule-generic: A standard measure of social and communicative deficits associated with the spectrum of autism. J Autism Dev Disord 30:205-223.
22. Manning MA, Cassidy SB, Clericuzio C, Cherry AM, Schwartz S, Hudgins L, Enns GM, Hoyme HE. 2004. Terminal 22q deletion syndrome: A newly recognized cause of speech and language disability in the autism spectrum. Pediatrics 114:451-457.
23. Nair-Miranda K, Murch A, Petterson B, Hill W, Nikolova-Hill A, Bradley L, Jackson S, Hallmayer J. 2004. An investigation into subtelomeric deletions of chromosome 22 and pervasive developmental disorders. Am J Med Genet Part B 125B:99-104.
24. NIH and IMMC. 1996. A complete set of human telomeric probes and their clinical application. Nat Genet 14:86-89.
25. Noel B, Quack B, Rethore MO. 1976. Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations. Clin Genet 9:593-602.
26. Pickles A, Bolton P, Macdonald H, Bailey A, Le Couteur A, Sim CH, 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.
27. Pritchard JK. 2001. Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 69:124-137.
28. Rao W, Carpenter NJ, Gucsavas M, Coldwell J, Say B. 1995. Partial trisomy 13q identified by sequential fluorescence in situ hybridization. Am J Med Genet 58:50-53.
29. Rivas F, Rivera H, Plascencia ML, Ibarra B, Cantu JM. 1984. The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation. Hum Genet 67:86-93.
30. Rowland JS, Barton DE, Taylor GR, UK Clinical Molecular Genetics Society HMSN Project Group. 2001. A comparison of methods for gene dosage analysis in HMSN type 1. J Med Genet 38:90-95.
31. Schopler E, Reichler RJ, DeVellis RF, Daly K. 1980. Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS). J Autism Dev Disord 10:91-103.
32. Schopler E, Rechler RJ, Bashford A, Lansing MD, Marcus LM. 1990. Individualized assessment and treatment for autistic and developmental disabled children. Vol. I, PsychoEducational Profile Revised (PEP-R), Austin, Texas: Pro-ed.
33. Sparrow SS, Balla D, Cicchetti D. 1984. Vineland Adaptive Behavior Scales (Survey Form). Circle Pines, MN: American Guidance Service.
34. Steffenburg S. 1991. Neuropsychiatric assessment of children with autism: A population-based study. Develop Med Child Neurol 33:495-511.
35. Taysi K, Bobrow M, Balci S, Madan K, Atasu M, Say B. 1973. Duplication-deficiency product of a pericentric inversion in man: A cause of D 1 trisomy syndrome. J Pediatr 82:263-268.
36. Tosi S, Harbott J, Haas OA, Douglas A, Hughes DM, Ross FM, Biondi A, Scherer SW, Kearney L. 1996. Classification of deletions and identification of cryptic translocations involving 7q by fluorescence in situ hybridization (FISH). Leukemia 10:644-649.
37. Tugendreich S, Tomkiel J, Earnshaw W, Hieter P. 1995. CDC27Hs colocalizes with CDC16Hs to the centrosome and mitotic spindle and is essential for the metaphase to anaphase transition. Cell 81:261-268.
38. van Karnebeek CD, van Gelderen I, Nijhof GJ, Abeling NG, Vreken P, Redeker EJ, van Eeghen AM, Hoovers JM, Hennekam RC. 2002. An aetiological study of 25 mentally retarded adults with autism. J Med Genet 39:205-213.
39. van Karnebeek CD, Jansweijer MC, Leenders AG, Offringa M, Hennekam RC. 2005. Diagnostic investigations in individuals with mental retardation: A systematic literature review of their usefulness. Eur J Hum Genet 13:6-25.
40. Vincent JB, Petek E, Thevarkunnel S, Kolozsvari D, Cheung J, Patel M, Scherer SW. 2002. The RAY1/ST7 tumor-suppressor locus on chromosome 7q31 represents a complex multi-transcript. Genomics 80:283-294.
41. Wassink TH, Pive J, Patil SR. 2001. Chromosomal abnormalities in a clinic sample of individuals with autistic disorder. Psych Genet 11:57-63.
42. Wechsler D. 1974. Wechsler Intelligence Scale for Children-Revised. New York: The Pyschological Corporation.
43. Wolff DJ, Clifton K, Karr C, Charles J. 2002. Pilot assessment of the subtelomeric regions of children with autism: Detection of a 2q deletion. Genet Med 4:10-14.
44. World Health Organization. 1993. The Icd-10 classification of mental and behavioral diseases. Geneva: WHO.
45. Yanagisawa S, Yokoyama H, Agena N. 1978. Partial distal trisomy 13q resulting from familial reciprocal 5/13 translocation. Hum Genet 45:345-350.
46. Yasui K, Arii S, Zhao C, Imoto I, Ueda M, Nagai H, Emi M, Inazawa J. 2002. TFDP1, CUL4A, and CDC16 identified as targets for amplification at 13q34 in hepatocellular carcinomas. Hepatology 35:1476-1484.