A patient with autistic disorder and a 20/22 chromosomal translocation

Francisco Carratalá, Francisco Galan, Manuel Moya, Xavier P. Estivill, Melanie A. Pritchard, Roser Llevadot, Marga Nadal, Monica Gratacòs

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The case history of a 3-year-old boy without speech and who met 10 criteria of an autistic condition (DSM-IV) (American Psychiatric Association 1994) is reported. Psychometric evaluation, excluding the verbal scale, resulted in an IQ score of 56. The cytogenetic study showed a 20/22 translocation and an interstitial deletion within the region 22q11: 45,XY, -22, +der(20), t(20;22)(q13.3;q11.2), which was confirmed by fluorescence in situ hybridisation (FISH). Although deletions at 22q11 are responsible for the DiGeorge syndrome; clinical, metabolic, and neurological image studies of the patient were inconsistent with this syndrome. In the clinical examination the patient presented with a mildly dysmorphic facies, pectus excavatum, and a short thumb. A 99mTc HMPAO brain perfusion SPECT showed a hypoperfusion of the left temporoparietal cortex. As there have been no previous reports of autistic patients with abnormalities involving both chromosomes 20 and 22, these findings merit some discussion either as a possible cause of autism or as accompanying factors.

Original languageEnglish
Pages (from-to)492-495
Number of pages4
JournalDevelopmental Medicine and Child Neurology
Issue number7
Publication statusPublished - 1998
Externally publishedYes


ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neuroscience(all)

Cite this

Carratalá, F., Galan, F., Moya, M., Estivill, X. P., Pritchard, M. A., Llevadot, R., Nadal, M., & Gratacòs, M. (1998). A patient with autistic disorder and a 20/22 chromosomal translocation. Developmental Medicine and Child Neurology, 40(7), 492-495.