Cytogenetic studies in a selected group of mentally retarded children
| Autor: | J. J. Peter, M S Moghe, L. M. Ambani, Z. M. Patel |
|---|---|
| Rok vydání: | 1981 |
| Předmět: |
Chromosome Aberrations
Male Genetics X Chromosome Infant Physiology Chromosome Disorders Karyotype Mentally retarded Biology Azure Stains Human genetics Chromosome Banding Blood Grouping and Crossmatching Child Preschool Intellectual Disability Karyotyping Humans Female Down Syndrome Child Sex Chromosome Aberrations Genetics (clinical) |
| Zdroj: | Human Genetics. 58:184-187 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf00278708 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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