Clinical frequency of chromosomal abnormalities observed in a consecutive series of patients with autistic disorder (AUTD)

C. M. Wolpert, H. H. Wright, M. L. Cuccaro, G. R. DeLong, M. A. Pericak-Vance

Research output: Contribution to journalArticlepeer-review

Abstract

Numerous reports cite the co-occurrence of AutD with various chromosome anomalies suggesting the potential of a causal relationship in a subset of cases. We examined the frequency of chromosome anomalies in 333 consecutively ascertained AutD patients from 99 multiplex and 127 singleton families. All patients had their diagnosis confirmed using the Autism Diagnostic Interview- Revised (ADI-R). 32% (N -106) of the AutD individuals had chromosome analysis done as part of their medical evaluation. Seven different chromosomal anomalies were observed in 7 independent families. The anomalies included: 18q-(3 unrelated patients); de novo, partial duplication of 7p, familial paracentric inversion (7) (q22.1-q31.2), XO, 2q-, familial 13; 14 Robertsonian translocation, and isodicentric chromosome 15 anomalies (5 unrelated patients). All chromosome anomalies with the exception of the Robertsonian translocation and the inv 7q cases were de novo occurrences in the AutD individuals and observed in singleton families. Here we report the clinical, developmental, and cytogenetic results for these individuals.

Original languageEnglish (US)
Number of pages1
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume105
Issue number7
StatePublished - Oct 8 2001
Externally publishedYes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience

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