CLINICAL IMPORTANCE OF CHROMOSOMAL TRANSLOCATIONS
- 1 January 1980
- journal article
- research article
- Vol. 92 (11) , 395-405
Abstract
A total of 5835 chromosomal analyses were performed between May 1, 1962 and Dec. 31, 1978. From this data, 68 translocations (1.1%) were found, and 36 translocation carriers were identified as being chromosomally balanced, including 24 healthy and 12 clinically abnormal patients. Centric fusions (3 .times. D/D, 2 .times. D/G) were seen in 5 cases, and other chromosomal rearrangements were found in 7 other patients. The other 32 translocation carriers were chromosomally non-balanced. Among them were 28 patients with centric fusions (12 .times. G/G, 2 .times. D/D, 14 .times. D/G). Four others had rearrangements combined with characteristic clinical features. A review of the chromosomal translocations found in this laboratory is presented. The relation between clinical appearance and chromosomal rearrangement is discussed.This publication has 9 references indexed in Scilit:
- A mentally and physically retarded girl with a familial balanced reciprocal translocation t(7; 13)Hereditas, 2009
- Trisomy 4p and Deletion 4p- in a Family having a Translocation, t(4p-; 12p+)Human Heredity, 1978
- De novo balanced reciprocal translocation 46,XY,t(6;8)(q13;q22).Journal of Medical Genetics, 1977
- Two reciprocal translocations associated with microcephaly and retardation.Journal of Medical Genetics, 1977
- Apparently balanced de novo translocations in patients with abnormal phenotypes: Report of 6 casesClinical Genetics, 1977
- 2 NEW CASES OF TRISOMY 10Q24-]10QTER IN 2 SISTERS DUE TO A PATERNAL TRANSLOCATION T(9-10)(Q34-Q24)1977
- PARTIAL TRISOMY-13 DUE TO T(2-13) MAT1977
- Meiotic behavior of five human reciprocal translocationsCytogenetic and Genome Research, 1976
- Chromosome preparations of leukocytes cultured from human peripheral bloodExperimental Cell Research, 1960