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PMID: 10425588 Published · ppublish English Case Reports Journal Article Review

Deletion of chromosome 2q37 and autism: a distinct subtype?

Journal of autism and developmental disorders ·Vol. 29 ·No. 3 ·1999-06-00 ·Pages 259-63

Ghaziuddin M, Burmeister M

Abstract

Several reports have described the occurrence of chromosome abnormalities in autism, a neuro-developmental disorder characterized by social deficits, communication impairment, and a restricted range of interests. These include the fragile X abnormality and 15q duplications. In this report, we describe two cases of chromosome 2q37 and review the literature on this topic. We propose that deletion of the distal portion of the long arm of chromosome 2 (2q37) may be associated with some cases of autism and with a distinct phenotype. Increased awareness of the dysmorphic features associated with 2q37 deletions may aid in the molecular genetic analysis of this chromosome anomaly and clarify its relationship with autism.

MeSH Terms
Autistic Disorder/genetics Child Chromosome Aberrations/genetics Chromosome Deletion Chromosome Disorders Chromosomes, Human, Pair 2/genetics Humans Male X Chromosome/genetics
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Ghaziuddin M
Department of Psychiatry, University of Michigan, Ann Arbor, USA. [email protected]
Burmeister M
References (19)
19 references, click to expand
  1. Behavior checklist for identifying severely handicapped individuals with high levels of autistic behavior.
    J Child Psychol Psychiatry. 1980 Jul;21(3):221-9 PMID: 7430288
  2. Partial 6p trisomy associated with infantile autism.
    Clin Genet. 1988 May;33(5):356-9 PMID: 3378366
  3. Autism associated with marker chromosome.
    J Am Acad Child Adolesc Psychiatry. 1991 May;30(3):489-94 PMID: 2055888
  4. Chromosomal mapping of A1 and A2 adenosine receptors, VIP receptor, and a new subtype of serotonin receptor.
    Genomics. 1991 Sep;11(1):225-7 PMID: 1662665
  5. Characterization and sequence analysis of the human homeobox-containing gene GBX2.
    Genomics. 1996 Feb 1;31(3):335-42 PMID: 8838315
  6. A case of deletion 2q35----qter and a peculiar phenotype.
    J Med Genet. 1984 Apr;21(2):147-9 PMID: 6716416
  7. Deletion 2q: two new cases with karyotypes 46,XY,del(2)(q31q33) and 46,XX,del(2)(q36).
    J Med Genet. 1983 Jun;20(3):199-202 PMID: 6876110
  8. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.
    Am J Hum Genet. 1997 Apr;60(4):928-34 PMID: 9106540
  9. Prevalence of the fragile X anomaly amongst autistic twins and singletons.
    J Child Psychol Psychiatry. 1993 Jul;34(5):673-88 PMID: 8340438
  10. Velocardiofacial manifestations and microdeletions in schizophrenic inpatients.
    Am J Med Genet. 1997 Nov 12;72(4):455-61 PMID: 9375731
  11. Chromosomes in autism and related pervasive developmental disorders: a cytogenetic study.
    J Intellect Disabil Res. 1998 Feb;42 ( Pt 1):8-12 PMID: 9534109
  12. The 5-HT2B receptor gene maps to 2q36.3-2q37.1.
    Genomics. 1996 Feb 15;32(1):172-3 PMID: 8786115
  13. Chromosome abnormalities in infantile autism and other childhood psychoses: a population study of 66 cases.
    Dev Med Child Neurol. 1985 Jun;27(3):293-304 PMID: 3160621
  14. Autism diagnostic interview: a standardized investigator-based instrument.
    J Autism Dev Disord. 1989 Sep;19(3):363-87 PMID: 2793783
  15. Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.
    Proc Natl Acad Sci U S A. 1995 Aug 15;92(17):7612-6 PMID: 7644464
  16. Clinical phenotype associated with terminal 2q37 deletion.
    Clin Genet. 1995 Sep;48(3):134-9 PMID: 8556820
  17. Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy.
    Am J Med Genet. 1992 Nov 1;44(4):500-2 PMID: 1442895
  18. Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37).
    Am J Med Genet. 1989 Mar;32(3):350-2 PMID: 2729355
  19. A case of autism associated with partial tetrasomy 15.
    J Autism Dev Disord. 1995 Feb;25(1):41-9 PMID: 7608033
Article Info
Journal
Journal of autism and developmental disorders
Abbr.
J Autism Dev Disord
ISSN
0162-3257
Published
1999-06-00
Pages
259-63
Language
English
Region
United States
NLM ID
7904301
Subset
IM
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