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Indian Journal of Human Genetics
Medknow Publications on behalf of Indian Society of Human Genetics
ISSN: 0971-6866
EISSN: 0971-6866
Vol. 11, No. 2, 2005, pp. 105-107
Bioline Code: hg05012
Full paper language: English
Document type: Research Article
Document available free of charge

Indian Journal of Human Genetics, Vol. 11, No. 2, 2005, pp. 105-107

 en Short Article- Isolated cell translocations: Are they significant?
Devi RR, Sayee R


BACKGROUND: Cytogenetics study using cultured T-lymphocytes derived from peripheral blood is the easiest way to study human chromosome complement and it is also an excellent method to study chromosomal abnormalities: either structural or numerical. The structural chromosomal abnormalities include translocations, deletions, duplications, ring chromosomes and isochromosomes.
AIMS: Cases presenting with multiple congenital anomalies, mental retardation, pregnancy wastage or abnormalities in sexual function are referred to the Division of Human Genetics to rule out chromosomal anomalies.
METHODS AND MATERIALS: A total of 70 cases with multiple congenital anomalies, mental retardation, pregnancy wastage or abnormalities in sexual function were studied. About 72 h cultured peripheral lymphocytes subjected to GTG banding were analyzed to look at the chromosome profile.
RESULTS: Out of 70 cases of reciprocal translocation, single cell translocations were seen in ten cases (three females; seven males). Looking at the case profile, it was seen that they were referred for mental retardation, bad obstetric history and hypogonadism. It was seen that seven cases (70%) had t(7;14), two (20%) had complex translocations: t(X;9;8) and t(2;10;11), and one (10%) had t(4;21).
CONCLUSIONS: Depending on the phenotype, the patients were informed of their abnormality and the need for a look out for the development of any associated problems.

Chromosomal abnormality; GTG banding; T-lymphocyte; translocation

© Copyright 2005 Indian Journal of Human Genetics.
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