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

Research output: Contribution to journalArticle

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Abstract

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
Volume40
Issue number7
Publication statusPublished - 1998
Externally publishedYes

Fingerprint

Genetic Translocation
Autistic Disorder
Technetium Tc 99m Exametazime
Chromosomes, Human, Pair 20
Funnel Chest
DiGeorge Syndrome
Chromosomes, Human, Pair 22
Thumb
Single-Photon Emission-Computed Tomography
Fluorescence In Situ Hybridization
Psychometrics
Cytogenetics
Diagnostic and Statistical Manual of Mental Disorders
Perfusion
Brain

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., ... Gratacòs, M. (1998). A patient with autistic disorder and a 20/22 chromosomal translocation. Developmental Medicine and Child Neurology, 40(7), 492-495.

A patient with autistic disorder and a 20/22 chromosomal translocation. / Carratalá, Francisco; Galan, Francisco; Moya, Manuel; Estivill, Xavier P.; Pritchard, Melanie A.; Llevadot, Roser; Nadal, Marga; Gratacòs, Monica.

In: Developmental Medicine and Child Neurology, Vol. 40, No. 7, 1998, p. 492-495.

Research output: Contribution to journalArticle

Carratalá, F, Galan, F, Moya, M, Estivill, XP, Pritchard, MA, Llevadot, R, Nadal, M & Gratacòs, M 1998, 'A patient with autistic disorder and a 20/22 chromosomal translocation', Developmental Medicine and Child Neurology, vol. 40, no. 7, pp. 492-495.
Carratalá F, Galan F, Moya M, Estivill XP, Pritchard MA, Llevadot R et al. A patient with autistic disorder and a 20/22 chromosomal translocation. Developmental Medicine and Child Neurology. 1998;40(7):492-495.
Carratalá, Francisco ; Galan, Francisco ; Moya, Manuel ; Estivill, Xavier P. ; Pritchard, Melanie A. ; Llevadot, Roser ; Nadal, Marga ; Gratacòs, Monica. / A patient with autistic disorder and a 20/22 chromosomal translocation. In: Developmental Medicine and Child Neurology. 1998 ; Vol. 40, No. 7. pp. 492-495.
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