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Cytogenetic studies in a selected group of mentally retarded children

โœ Scribed by M. Moghe; Z. M. Patel; J. J. Peter; L. M. Ambani


Publisher
Springer
Year
1981
Tongue
English
Weight
454 KB
Volume
58
Category
Article
ISSN
0340-6717

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โœฆ Synopsis


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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โœ Avirachan T. Tharapel; Robert L. Summitt ๐Ÿ“‚ Article ๐Ÿ“… 1977 ๐Ÿ› Springer ๐ŸŒ English โš– 545 KB

A cytogenetic survey was carried out on 200 patients with mental retardation and multiple congenital anomalies, and on 200 normal adult controls. Patients with a known syndrome were excluded from the survey. Chromosome analyses were carried out on 'blind-coded' slides using the ASG banding technique