Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders

American Journal of Medical Genetics

Volumn 117 A, Issue 2, 2003, Pages 105-111

  Keller, Kory ^a,c   Williams, Charles ^a   Wharton, Paul ^b   Paulk, Martha ^b   Bent Williams, Angela ^a   Gray, Brian ^a   Ward, Angie ^a   Stalker, Heather ^a   Wallace, Margaret ^a,b   Carter, Randy ^a   Zori, Roberto ^a  

^a UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF FLORIDA   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Autism; Autism spectrum disorder; Cytogenetic analysis; Dup (17)(p11.2); Dup (5)p, dup (15)(q11 13); Telomere

Indexed keywords

DNA;

ARTICLE; AUTISM; CHILD; CHROMOSOME 15Q; CHROMOSOME 7P; CHROMOSOME G BAND; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; CYTOGENETICS; DEVELOPMENTAL DISORDER; DNA PROBE; FAMILY HISTORY; FLUORESCENCE IN SITU HYBRIDIZATION; HAPPY PUPPET SYNDROME; HUMAN; HUMAN CELL; KARYOTYPE; PRADER WILLI SYNDROME; PREGNANCY; PRIORITY JOURNAL; TELOMERE; ADOLESCENT; ADULT; CHROMOSOME 15; CHROMOSOME 17; CHROMOSOME ABERRATION; CHROMOSOME BANDING PATTERN; FAMILY HEALTH; FEMALE; GENE DUPLICATION; GENETICS; KARYOTYPING; MALE; PATHOLOGY; PHYSICAL EXAMINATION; PRESCHOOL CHILD;

ADOLESCENT; ADULT; AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 17; FAMILY HEALTH; FEMALE; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; PHYSICAL EXAMINATION; TELOMERE;

EID: 0041413297     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10042     Document Type: Article

References (38)

1. Barrett S, Beck JC, Bernier R, Bisson E, Braun TA, Casavant TL, Childress D, Folstein SE, Garcia M, Gardiner MB, Gilman S, Haines JL, Hopkins K, Landa R, Meyer NH, Mullane JA, Nishimura DY, Palmer P, Piven J, Purdy J, Santangelo SL, Searby C, Sheffield V, Singleton J, Slager S, Struchen T, Svenson S, Vieland V, Wang K, Winklosky B. 1999. An autosomal genomic screen for autism. Collaborative linkage study of autism. Am J Med Genet 88:609-615.
2. Bass MP, Menold MM, Wolpert CM, Donnelly SL, Ravan SA, Hauser ER, Maddox LO, Vance JM, Abramson RK, Wright HH, Gilbert JR, Cuccaro ML, DeLong GR, Pericak-Vance MA. 2000. Genetic studies in autistic disorder and chromosome 15. Neurogenetics 2:219-226.
3. Bolton P, Macdonald H, Pickles A, Rios P, Goode S, Crowson M, Bailey A, Rutter M. 1994. A case-control family history study of autism. J Child Psychol Psychiatry 35:877-900.
4. Cantu ES, Stone JW, Wing AA, Langee HR, Williams CA. 1990. Cytogenetic survey for autistic fragile X carriers in a mental retardation center. Am J Ment Retard 94:442-447.
5. Ciaranello AL, Ciaranello RD. 1995. The neurobiology of infantile autism. Annu Rev Neurosci 18:101-128.
6. Committee on Children with Disabilities. 2001. Technical report: the pediatrician's rolein the diagnosis and management of autistic spectrum disorder in children. Pediatrics 107:E85.
7. Cook EH Jr, Courchesne RY, Cox NJ, Lord C, Gonen D, Guter SJ, Lincoln A, Nix K, Haas R, Leventhal BL, Courchesne E. 1998. Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers. Am J Hum Genet 62:1077-1083.
8. de Vries BB, White SM, Knight SJ, Regan R, Homfray T, Young ID, Super M, McKeown C, Splitt M, Quarrell OW, Trainer AH, Niermeijer MF, Malcolm S, Flint J, Hurst JA, Winter RM. 2001. Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J Med Genet 38:145-150.
9. Filipek PA, Accardo PJ, Baranek GT, Cook EH Jr, Dawson G, Gordon B, Gravel JS, Johnson CP, Kallen RJ, Levy SE, Minshew NJ, Ozonoff S, Prizant BM, Rapin I, Rogers SJ, Stone WL, Teplin S, Tuchman RF, Volkmar FR. 1999. The screening and diagnosis of autistic spectrum disorders. J Autism Dev Disord 29:439-484.
10. Flint J, Thomas K, Micklem G, Raynham H, Clark K, Doggett NA, King A, Higgs DR. 1997. The relationship between chromosome structure and function at a human telomeric region. Nat Genet 15:252-257.
11. Fombonne E. 1999. The epidemiology of autism: a review. Psychol Med 29:769-786.
12. Gillberg C. 1998. Chromosomal disorders and autism. J Autism Dev Disord 28:415-425.
13. Gillberg C, Coleman M. 1996. Autism and medical disorders: a review of the literature. Dev Med Child Neurol 38:191-202.
14. Goffin A, Hoefsloot LH, Bosgoed E, Swillen A, Fryns JP. 2001. PTEN mutation in a family with Cowden syndrome and autism. Am J Med Genet 105:521-524.
15. IMGSA Consortium. 1998. A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium. Hum Mol Genet 7:571-578.
16. Jorde LB, Mason-Brothers A, Waldmann R, Ritvo ER, Freeman BJ, Pingree C, McMahon WM, Petersen B, Jenson WR, Mo A. 1990. The UCLA-University of Utah epidemiologic survey of autism: genealogical analysis of familial aggregation. Am J Med Genet 36:85-88.
17. Knight SJ, Flint J. 2000. Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis. J Med Genet 37:401-409.
18. Knight SJ, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J. 1999. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354:1676-1681.
19. Knight SJ, Lese CM, Precht KS, Kuc J, Ning Y, Lucas S, Regan R, Brenan M, Nicod A, Lawrie NM, Cardy DL, Nguyen H, Hudson TJ, Riethman HC, Ledbetter DH, Flint J. 2000. An optimized set ofhuman telomere clones for studying telomere integrity and architecture. Am J Hum Genet 67:320-332.
20. Lauritsen M, Ewald H. 2001. The genetics of autism. Acta Psychiatr Scand 103:411-427.
21. Liu J, Nyholt DR, Magnussen P, Parano E, Pavone P, Geschwind D, Lord C, Iversen P, Hoh J, Autism Genetic Resource Exchange Consortium, Ott J, Gilliam TC. 2001. A genomewide screen for autism susceptibility loci. Am J Hum Genet 69:327-340.
22. Mariner R, Jackson AW 3rd, Levitas A, Hagerman RJ, Braden M, McBogg PM, Smith AC, Berry R. 1986. Autism, mental retardation, and chromosomal abnormalities. J Autism Dev Disord 16:425-440.
23. Philippe A, Martinez M, Guilloud-Bataille M, Gillberg C, Rastam M, Sponheim E, Coleman M, Zappella M, Aschauer H, Van Maldergem L, Penet C, Feingold J, Brice A, Leboyer M, van Malldergerme L. 1999. Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study [published erratum appears in Hum Mol Genet 1999; 8:1353]. Hum Mol Genet 8:805-812.
24. Piven J, Gayle J, Chase GA, Fink B, Landa R, Wzorek MM, Folstein SE. 1990. A family history study of neuropsychiatric disorders in the adult siblings of autistic individuals. J Am Acad Child Adolesc Psychiatry 29:177-183.
25. Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. 2000. Molecular mechanism for duplication 17p11.2-the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 24:84-87.
26. Repetto GM, White LM, Bader PJ, Johnson D, Knoll JH. 1998. Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization. Am J Med Genet 79:82-89.
27. Risch N, Spiker D, Lotspeich L, Nouri N, Hinds D, Hallmayer J, Kalaydjieva L, McCague P, Dimiceli S, Pitts T, Nguyen L, Yang J, Harper C, Thorpe D, Vermeer S, Young H, Hebert J, Lin A, Ferguson J, Chiotti C, Wiese-Slater S, Rogers T, Salmon B, Nicholas P, Petersen PB, Pingree C, McMahon W, Wong DL, Cavalli-Sforza LL, Kraemer HC, Myers RM. 1999. A genomic screen of autism: evidence for a multilocus etiology. Am J Hum Genet 65:493-507.
28. Rutter M, Bailey A, Bolton P, Le Couteur A. 1994. Autism and known medical conditions: myth and substance. J Child Psychol Psychiatry 35:311-322.
29. Saccone S, De Sario A, Della Valle G, Bernardi G. 1992. The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes. Proc Natl Acad Sci USA 89:4913-4917.
30. Schroer RJ, Phelan MC, Michaelis RC, Crawford EC, Skinner SA, Cuccaro M, Simensen RJ, Bishop J, Skinner C, Fender D, Stevenson RE. 1998. Autism and maternally derived aberrations of chromosome 15q. Am J Med Genet 76:327-336.
31. Shaffer LG, Kennedy GM, Spikes AS, Lupski JR. 1997. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am J Med Genet 69:325-331.
32. Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, Kingston H, Campbell RH, Flint J, Donnai D, Biesecker L. 1999. Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J Med Genet 36:405-411.
33. Spiker D, Lotspeich L, Kraemer HC, Hallmayer J, McMahon W, Petersen PB, Nicholas P, Pingree C, Wiese-Slater S, Chiotti C, Wong DL, Dimicelli S, Ritvo E, Cavalli-Sforza LL, Ciaranello RD. 1994. Genetics of autism: characteristics of affected and unaffected children from 37 multiplex families. Am J Med Genet 54:27-35.
34. Swillen A, Hellemans H, Steyaert J, Fryns JP. 1996. Autism and genetics: high incidence of specific genetic syndromes in 21 autistic adolescents and adults living in two residential homes in Belgium. Am J Med Genet 67:315-316.
35. Szatmari P, Jones MB, Tuff L, Bartolucci G, Fisman S, Mahoney W. 1993. Lack of cognitive impairment in first-degree relatives of children with pervasive developmental disorders. J Am Acad Child Adolesc Psychiatry 32:1264-1273.
36. Vostanis P, Harrington R, Prendergast M, Famdon P. 1994. Case reports of autism with interstitial deletion of chromosome 17 (p11.2p11.2) and monosomy of chromosome 5 (5pter→5p15.3). Psychiatr Genet 4:109-111.
37. Wolff DJ, Clifton J, Charles J. 2000. Assessment of subtelomeric regions of children with autism: detection of a 2q deletion. Am J Hum Genet 67:162:A857.
38. Zori RT, Marsh DJ, Graham GE, Marliss EB, Eng C. 1998. Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet 80:399-402.