Three probands with autistic disorder and isodicentric chromosome 15

Chantelle M. Wolpert, Marisa M. Menold, Meredyth P. Bass, Mazin B. Qumsiyeh, Shannon L. Donnelly, Sarah A. Ravan, Jeffery M Vance, John Gilbert, Ruth K. Abramson, Harry H. Wright, Michael Cuccaro, Margaret A Pericak-Vance

Research output: Contribution to journalArticle

77 Citations (Scopus)

Abstract

We have identified three unrelated probands with autistic disorder (AD) and isodicentric chromosomes that encompass the proximal region of 15q11.2. All three probands met the Diagnostic and Statistical Manual of Mental Disorders, fourth edition [DSM-IV; American Psychiatric Association, 1994], and International Classification of Diseases (ICD-10) diagnostic criteria for AD, confirmed with the Autism Diagnostic Interview-Revised (ADI-R). Chromosome analysis revealed the following karyotypes: 47,XX,+idic(15) (q11.2), 47,XX,+idic(15) (q11.2), and 47,XY,+idic(15)(q11.2). Haplotype analysis of genotypic maker data in the probands and their parents showed that marker chromosomes in all three instances were of maternal origin. Comparison of the clinical findings of the three AD probands with case reports in the published literature (N = 20) reveals a clustering of physical and developmental features. Specifically, these three probands and the majority of reported probands in the literature exhibited hypotonia (n = 13), seizures (n = 13), and delayed gross motor development (n = 13). In addition, clustering of the following clinical signs was seen with respect to exhibited speech delay (n = 13), lack of social reciprocity (n = 11), and stereotyped behaviors (n = 12). Collectively, these data provide further evidence for the involvement of chromosome 15 in AD as well as present preliminary data suggesting a clustering of clinical features in AD probands with proximal 15q anomalies. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)365-372
Number of pages8
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume96
Issue number3
DOIs
StatePublished - Jun 12 2000
Externally publishedYes

Fingerprint

Autistic Disorder
Cluster Analysis
International Classification of Diseases
Diagnostic and Statistical Manual of Mental Disorders
Chromosomes
Stereotyped Behavior
Language Development Disorders
Chromosomes, Human, Pair 15
Muscle Hypotonia
Karyotype
Genetic Markers
Haplotypes
Isodicentric Chromosome 15 Syndrome
Seizures
Mothers
Interviews

Keywords

  • De novo
  • Gamma- aminobutyric acid receptor (GABA)
  • Isodicentric chromosome 15q
  • Maternally derived

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

Cite this

Three probands with autistic disorder and isodicentric chromosome 15. / Wolpert, Chantelle M.; Menold, Marisa M.; Bass, Meredyth P.; Qumsiyeh, Mazin B.; Donnelly, Shannon L.; Ravan, Sarah A.; Vance, Jeffery M; Gilbert, John; Abramson, Ruth K.; Wright, Harry H.; Cuccaro, Michael; Pericak-Vance, Margaret A.

In: American Journal of Medical Genetics - Neuropsychiatric Genetics, Vol. 96, No. 3, 12.06.2000, p. 365-372.

Research output: Contribution to journalArticle

Wolpert, Chantelle M. ; Menold, Marisa M. ; Bass, Meredyth P. ; Qumsiyeh, Mazin B. ; Donnelly, Shannon L. ; Ravan, Sarah A. ; Vance, Jeffery M ; Gilbert, John ; Abramson, Ruth K. ; Wright, Harry H. ; Cuccaro, Michael ; Pericak-Vance, Margaret A. / Three probands with autistic disorder and isodicentric chromosome 15. In: American Journal of Medical Genetics - Neuropsychiatric Genetics. 2000 ; Vol. 96, No. 3. pp. 365-372.
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AU - Wolpert, Chantelle M.

AU - Menold, Marisa M.

AU - Bass, Meredyth P.

AU - Qumsiyeh, Mazin B.

AU - Donnelly, Shannon L.

AU - Ravan, Sarah A.

AU - Vance, Jeffery M

AU - Gilbert, John

AU - Abramson, Ruth K.

AU - Wright, Harry H.

AU - Cuccaro, Michael

AU - Pericak-Vance, Margaret A

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N2 - We have identified three unrelated probands with autistic disorder (AD) and isodicentric chromosomes that encompass the proximal region of 15q11.2. All three probands met the Diagnostic and Statistical Manual of Mental Disorders, fourth edition [DSM-IV; American Psychiatric Association, 1994], and International Classification of Diseases (ICD-10) diagnostic criteria for AD, confirmed with the Autism Diagnostic Interview-Revised (ADI-R). Chromosome analysis revealed the following karyotypes: 47,XX,+idic(15) (q11.2), 47,XX,+idic(15) (q11.2), and 47,XY,+idic(15)(q11.2). Haplotype analysis of genotypic maker data in the probands and their parents showed that marker chromosomes in all three instances were of maternal origin. Comparison of the clinical findings of the three AD probands with case reports in the published literature (N = 20) reveals a clustering of physical and developmental features. Specifically, these three probands and the majority of reported probands in the literature exhibited hypotonia (n = 13), seizures (n = 13), and delayed gross motor development (n = 13). In addition, clustering of the following clinical signs was seen with respect to exhibited speech delay (n = 13), lack of social reciprocity (n = 11), and stereotyped behaviors (n = 12). Collectively, these data provide further evidence for the involvement of chromosome 15 in AD as well as present preliminary data suggesting a clustering of clinical features in AD probands with proximal 15q anomalies. (C) 2000 Wiley-Liss, Inc.

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