Abstract
Cytogenetic and molecular cytogenetic analysis of children with autism (90 subjects) and their mothers (18 subjects) is presented. Anomalies and fragility were found in chromosome X in four cases of autism: mos 47,XXX[98]/46, XX[2]; 46,XY,r(22)(p11q13); 46,XY,inv(2)(p11.2q13),16qh-; and 46,Y,fra(X)(q27.3),16qh-. C staining and quantitative fluorescent in situ hybridization (FISH) were used to demonstrate a significant increase in the frequency of variations in the heterochromatin regions of chromosomes in children with autism as compared with a control group (48% and 16% respectively). Pericentric chromosome inversion 9phqh was not characteristic of patients with autism, while variation in heterochromatin regions 1phqh, 9qh+, and 16qh-were found significantly more frequently in children with autism. These data provide the basis for discussing the possible role of the gene position effect in the pathogenesis of autism and the possible search for biological markers of autistic disorders.
Article PDF
Similar content being viewed by others
Avoid common mistakes on your manuscript.
References
V. M. Bashina, Autism in Childhood [in Russian], Meditsina, Moscow (1999).
S. G. Vorsanova, I. A. Demidova, V. Yu. Ulas, et al., “Cytogenetic and molecular-cytogenetic diagnosis of Rett syndrome in children,” Zh. Nevrol. Psikhiat., 98, No. 4, 53–56 (1998).
S. G. Vorsanova, Yu. B. Yurov, and V. N. Chernyshov, Chromosomal Syndromes and Anomalies. Classification and Nomenclature [in Russian], Rostov State Medical University, Rostov on Don (1999).
S. G. Vorsanova and Yu. B. Yurov, “Molecular-cytogenetic pre-and postnatal diagnosis of chromosomal pathology,” Vestn. Ros. Akad. Med. Nauk., 11, 12–15 (1999).
I. A. Demidova and S. G. Vorsanova, “Cytogenetic and molecular polymorphism in human chromosomes,” Med. Genetika (Éksper. Infor.), 12, 1–8 (1990).
A. A. Prokof’eva-Bel’govskaya, The Heterochromatin Regions of Chromosomes [in Russian], Nauka, Moscow (1986).
I. V. Solov’ev, Yu. B. Yurov, S. G. Vorsanova, et al., “Studies of alpha satellite DNA in cosmid libraries specific for chromosomes 13, 21, and 22 using in situ fluorescence hybridization,” Genetika, 11, 1470–1479 (1998).
Yu. B. Yurov and S. G. Vorsanova, “Molecular-genetic studies of chromosomal anomalies and abnormalities in neuropsychiatric disorders: a search for biological markers for diagnosis,” Vestn. Ros. Akad. Med. Nauk., 7, 26–31 (2001).
I. Yu. Yurov, S. G. Vorsanova, and Yu. B. Yurov, “X-linked mental fatigue, epigenetic phenomena, and autism,” Psikhiatriya, 1, 55–65 (2005).
D. Castermans, V. Wilquet, J. Steyaert, et al., “Chromosomal abnormalities in individuals with autism. A strategy towards the identification of genes involved in autism,” Autism, 8, 141–161 (2004).
Diagnostic and Statistical Manual of Mental Disorders, American Psychiatric Association, 4th Edition (1994).
I. Y. Yurov, I. V. Soloviev, S. G. Vorsanova, et al., “An approach for quantitative assessment of fluorescence in situ hybridization (FISH) signals for applied human molecular cytogenetics,” J. Histochem. Cytochem., 53, 401–408 (2005).
P. T. Ozand, A. Al-Odaib, H. Merza, and A. Al Harbi, “Autism: a review,” J. Pediat. Neurol., 1, 55–67 (2003).
I. Rapin, “Autism,” New Engl. J. Med., 337, 97–104 (1997).
E. Schopler, R. Reichler, and B. Rochen Renner, Childhood Autism Rating Scale, Western Psychological Services, Los Angeles (1993).
I. V. Soloviev, Y. B. Yurov, S. G. Vorsanova, and P. Malet, “Microwave activation of fluorescence in situ hybridization: a novel method for rapid chromosome detection and analysis,” Focus, 16, 115–116 (1994).
J. Veenstra-Vender Weele and E. H. Cook, Jr., “Molecular genetics of autistic spectrum disorder,” Mol. Psychiat., 9, 819–832 (2004).
S. G. Vorsanova, I. A. Demidova, V. Y. Ulas, et al., “Cytogenetic and molecular-cytogenetic investigation of Rett syndrome. Analysis of 31 cases,” NeuroReport, 7, 187–189 (1996).
S. G. Vorsanova, I. Y. Yurov, and Y. B. Yurov, “Neurological, genetic and epigenetic features of Rett syndrome,” J. Pediat. Neurol., 2, 179–190 (2004).
Y. B. Yurov, I. V. Soloviev, S. G. Vorsanova, et al., “High resolution fluorescence in situ hybridization using cyanine and fluorescein dyes: ultra-rapid chromosome detection by directly fluorescently labeled alphoid DNA probes,” Hum. Genet., 97, 390–398 (1996).
H. E. Wyandt and V. S. Tank, Atlas of Human Chromosome Heteromorphisms, Kluwer Academic Publishers, Dordrecht, Boston, London (2004).
Author information
Authors and Affiliations
Additional information
__________
Translated from Zhurnal Nevrologii i Psikhiatrii imeni S. S. Korsakova, Vol. 106, No. 6, pp. 52–57, June, 2006.
Rights and permissions
About this article
Cite this article
Vorsanova, S.G., Yurov, I.Y., Demidova, I.A. et al. Variability in the heterochromatin regions of the chromosomes and chromosomal anomalies in children with autism: Identification of genetic markers of autistic spectrum disorders. Neurosci Behav Physiol 37, 553–558 (2007). https://doi.org/10.1007/s11055-007-0052-1
Received:
Issue Date:
DOI: https://doi.org/10.1007/s11055-007-0052-1