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Chromosomal Survey in 298 Normal Subjects and 1,253 Cases of Congenital Disorders during 1966-1970

Published online by Cambridge University Press:  01 August 2014

E. Battaglia ,
G. Guanti ,
P. Barsanti  and
P. Petrinelli
E. Battaglia
Affiliation:
Institute of Genetics of the University, Bari
G. Guanti
Affiliation:
Institute of Genetics of the University, Bari
P. Barsanti
Affiliation:
Institute of Genetics of the University, Bari
P. Petrinelli
Affiliation:
Institute of Genetics of the University, Bari

Summary

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A survey of chromosomal abnormalities has been carried out in Italy since 1966. Among the 1,551 subjects examined, the following abnormalities were found: 2 cases of C/C translocation, 1 of D/C, 5 of D/D, and 9 of D/G; 2 cases of Patau's syndrome with D trisomy; 4 cases of Edwards' syndrome; 176 cases of Down's syndrome, of which 163 with regular trisomy, 4 with mosaicism, 7 with D/G translocation, 1 with G/G translocation, and 1 with C/G translocation; 10 cases with 47,XXY complement; 1 case with 46,XY/47,XXY/48,XXXY mosaicism; 4 cases with 45,XO karyotype; 3 with 45,XO/46,XX, 1 with 45,XO/46,XY, 2 with 45,XO/46,XXr and 1 with 45,XO/46,XXi mosaicism; 2 cases with 47,XYY complement; 2 phenotypic females with 46, XY karyotype; and 5 leukaemic patients with Ph chromosome.

Furthermore, several kinds of normal variants were observed, such as no. 9 prominent secondary constriction, chromosome-D or -G enlarged short arm, 16-pair heteromorphism, Y-chromosome polymorphism, and satellited E chromosome.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 20 , Issue 2 , April 1971 , pp. 123 - 173
Copyright
Copyright © The International Society for Twin Studies 1970

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