Summary
Chromosomal abnormalities are an important cause of mental retardation. We studied the frequency of karyotype abnormalities in 74 mentally retarded patients selected from 306 patients referred to our clinic. Giemsa-banding was done on all cases. Additional studies in abnormal cases included autoradiography and X and Y chromatin. Karyotype analyses and blood group (Xg and Duffy) studies were carried out in family members in some cases.
Fourteen of these children had chromosomal abnormalities, seven sex chromosomal, and seven had autosomal abnormalities. Three patients had 45,X and one had a 45,X/46,Xr(X) karyotype. Other sex chromosomal abnormalities were 46,XX/ 48,XXXX;48,XXXY/49,XXXXY; and 48,XXYY. Autosomal abnormalities were 46,XX,1q-;46,XY,2q-;46,XY,5p-;46,XY, dup(5p); 45,XX,t(13,14); and 46,XY,17p-. This is the first report from India of cytogenetic abnormalities in idiopathic mental retardation. The chromosomal studies in these patients help not only in accurate diagnosis, proper prognosis, and genetic counseling but also in gene localization and in the study of the origin of X-chromosome abnormalities.
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References
Bühler E (1971) Clinical and cytogenetical aspects of sex chromosome activity. Hereditas 86:63–74
Chen ATL, Sergovich FR, McKim TS, Barr ML, Gruber D (1970) Chromosome studies in full-term low birthweight mentally retarded patients. Pediatr 76:393–398
Coco R, Penchaszadeh VB (1976) Frequency of chromosomal aberrations in 131 patients with multiple congenital malformations and mental retardation. J Pediatr 89:325
Daly RF (1970) Chromosome aberrations in 50 patients with idiopathic mental retardation and in 50 control subjects. J Pediatr 77:444–453
Doyle CT (1976) The cytogenetics of 90 patients with idiopathic mental retardation and of 90 normal subjects. Hum Genet 33:131–146
Hoo JJ, Hilling, U, Cramer H, Hansen S, Herman F (1974) Familial short arm deletion of chromosome 15. Hum Genet 21:283–286
Hungerford DA (1965) Leukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCL. Stain Technol 40:333–338
Jacobs PA, Matsuura JS, Mayer N, Newlands IM (1978) A cytogenetic survey of an institution for mentally retarded. Clin Genet 13:37–60
Kamat VV (1967) Measuring intelligence of Indian children. John Brown. University Press, Oxford
Lubs HA, Lubs ML (1973) New cytogenetic techniques applied to a series of children with mental retardation. In: Casperson T, Zech L (eds) Chromosome identification technique and application in biology and medicine. Nobel Symposia XIII Medical and Natural Sciences, Academic Press Inc, New York, pp 241–250
Mallin AJ (1968) Indian adoptation of E.A. Doll's Vineland Social Maturity Scale, Published by Nagpur Child Guidance Centre Nagpur
Magnelli MC (1976) Cytogenetics of 50 patients with mental retardation and multiple congenital anomalies and 50 normal subjects. Madison blind study IV. Clin Genet 9:169–182
Patil SR, Lubs HA, Brown J, Cohen M, Gerald P, Hecht F, Kimberling W, Nyrianthopoulos N, Summitt RL (1977) Incidence of major chromosome abnormalities in children. Cytogenet Cell Genet 18: 302–306
Peter J, Ambani L, Gogate S, Thatte M, Dave A, Devi PK (1977) Prenatal sex detection: Correlation of nuclear, phenotypic and gonadal sex. Indian Pediatr 14:259–262
Rogers AW (1973) Techniques of autoradiography, Elsevier Scientific Publication Company, New York, pp 296–327
Schmid W (1963) DNA replication pattern of human chromosomes. Cytogenetics 2:175–193
Summitt RL (1969) Cytogenetics in mentally defective children with anomalies. A control study. J Pediatr 74:58–66
Summitt RL (1973) Abnormalities of the autosomes. Pediatr Ann Insight Publishing, Co, New York
Summitt RL, Patau K (1964) Cytogenetic study on mentally defective children with congenital anomalies. J Pediatr 65:1097–1098
Sun NC, Chu EHY, Chung CC (1974) Staining method for the banding pattern of human mitotic chromosomes. Caryologia 27:315–324
Takagi N, Oshimura N (1973) Flourescence and Giemsa banding studies of the allocyclic X chromosomes in embryonic and adult mouse. Exp Cell Res 78:127–135
Warkany J, Weinstein ED, Soukup SW, Rubenstein JH, Curless MC (1964) Chromosomal analysis in a children's hospital. Selection of patients and results of studies. Pediatrics 33:290
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Moghe, M., Patel, Z.M., Peter, J.J. et al. Cytogenetic studies in a selected group of mentally retarded children. Hum Genet 58, 184–187 (1981). https://doi.org/10.1007/BF00278708
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DOI: https://doi.org/10.1007/BF00278708