Autism spectrum disorder, klinefelter syndrome, and chromosome 3p21.31 duplication: A case report

MedGenMed Medscape General Medicine

Volumn 9, Issue 4, 2007, Pages

  Stuart, Scott W ^a   King, Casey H ^b   Pai, G Shashidar ^a  

^a MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^b MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CENTRAL STIMULANT AGENT;

ACADEMIC FAILURE; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; BEHAVIOR DISORDER; CASE REPORT; CHROMOSOME 3P; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; COMPULSION; DISEASE DURATION; DISRUPTIVE BEHAVIOR; EXTRACHROMOSOMAL INHERITANCE; FAMILY HISTORY; GENETIC ANALYSIS; HUMAN; KARYOTYPE 47,XXY; KLINEFELTER SYNDROME; LANGUAGE DISABILITY; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; MOTOR DYSFUNCTION; NEUROPSYCHOLOGICAL TEST; NOCTURNAL ENURESIS; PHYSICAL EXAMINATION; SCHOOL CHILD; SLEEP DISORDER; SOCIAL ADAPTATION; CHILD; CHROMOSOME 21; CHROMOSOME ABERRATION; DEVELOPMENTAL DISORDER; FOLLOW UP; GENETICS; KARYOTYPING; MULTIPLE MALFORMATION SYNDROME;

ABNORMALITIES, MULTIPLE; AUTISTIC DISORDER; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 21; DEVELOPMENTAL DISABILITIES; FOLLOW-UP STUDIES; HUMANS; KARYOTYPING; KLINEFELTER SYNDROME; MALE;

EID: 37349117585     PISSN: 15310132     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

1. APA. Diagnostic criteria from Quick Reference to the DSM-IV-TR. Washington, DC: American Psychiatric Association; 2000: 59-61.
2. Prevalence of autism spectrum disorder - autism and developmental disability monitoring network, 14 sites, United States, 2002. MMWR. 2007;56(SS-1):1-44.
3. Herman GE, Henninger N, Ratliff-Schaub K, et al. Genetic testing in autism: how much is enough? Genet Med. 2007;9:268-274.
4. Wassink TH, Losh M, Piven J, et al. Systematic screening for subtelomeric anomalies in a clinical sample of autism. J Autism Dev Disord. 2007;37:703-708.
5. Jha P, Sheth D, Ghaziuddin M. Autism spectrum disorder and Klinefelter syndrome. Eur Child Adolesc Psychiatry. 2007;16:305-308.
6. Konstantareas M, Homatidis S. Chromosomal abnormalities in a series of children with autistic disorder. J Autism Dev Dis. 1999;29:275-285.
7. Merhar SL, Manning-Courtney P. Two boys with 47, XXY and autism. J Autism Dev Disord. 2007;37:840-846.
8. Kielinen M, Rantala H, Timonen E, et al. Associated medical disorders and disabilities in children with autistic disorder: a population-based study. Autism. 2004;8:49-60.
9. Jacquemont ML, Sanlaville D, Redon R, Raoul O, Cormier-Daire V, et al. Array-based comparative genomic hybridization identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet. 2006;43:843-849.
10. Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics. 2004;113:e472-e486.
11. Dyken EM, Sutcliffe JS, Levitt P. Autism and 15q11-q13 disorders: behavioral, genetic and pathophysiological issues. Ment Retard Disabil Res. 2004;11:284-291.
12. Cohen D, Pichard N, Tordjma S, Baumann C, et al. Specific genetic disorders and autism. Clinic contribution towards their identification. J Autism Dev Disord. 2005;35:103-111.
13. Fombonne E, DuMazaubrun C, Cans C, et al. Autism and associated medical disorders in a French epidemiological survey. J Am Acad Child Adoles Psychiatry 1997;36:1561-1569.
14. MacFabe DF, Cain DP, Rodriguez-Capote K, et al. Neurobiological effects of intraventricular propionic acid in rats: possible role of short chain fatty acids on the pathogenesis and characteristics of autism spectrum disorders. Behav Brain Res. 2007;176:149-169.
15. Fornbonne E. Epidemiology surveys of autism and other pervasive developmental disorders: an update. J Autism Dev Disord. 2003;33:365-382.
16. Schaefer GB, Lutz RE. Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders. Genet Med. 2006;8:549-556.
17. Shevell MI, Majnemer A, Rosenbaum P, et al. Etiologic yield of autistic spectrum disorders: a prospective study. J Child Neurology. 2001;16): 509-512.
18. Wattendorf DJ, Muenke M. Klinefelter syndrome. Am Fam Phys. 2005;72:2259-2262.
19. Charrow J, Cohen MM, Meeker D. Duplication 3p syndrome: report of a new case and review of the literature. Am J Med Genet. 1981;8:431-436.
20. Kurtzman DN, VanDyke DL, Rich CA, et al. Brief clinical report: duplication 3p21□''3pter and cyclopia. Am J Med Genet. 1987;2;33-37.
21. Subramonia-Iyer S, Sanderson S, Sagoo G, et al. Array-based comparative genomic hybridization for investigating chromosomal abnormalities in patients with learning disability: systematic review meta-analysis of diagnostic and false positive yields. Genet Med. 2007;9:74-79.
22. Kelsoe JR, Spence MA, Loetscher E, et al. A genome survey indicates a possible susceptibility locus for bipolar disorder on chromosome 22. PNAS. 2001;98:585-590.
23. Moeschler JB, Shevell M, the Committee on Genetics. Clinical genetics evaluation of the child with mental retardation or developmental delays. Pediatrics. 2006;117:2304-2316.