Chromosomal Abnormalities in 979 Cases of Amenorrhea: A Review

Kalavathi, V and Chandra, N and Nambiar, Renjini G and Shanker, Jayashree and Sugunashankari, P and Meena, J and Jegatheesan, T and Santhiya, ST and Ramesh, A and Gopinath, PM and Marimuthu, KM (2010) Chromosomal Abnormalities in 979 Cases of Amenorrhea: A Review. International Journal of Human Genetics, 10 (1-3). pp. 65-69.

[img] PDF
6-_Int._Jr._Human_Genet_2010_-_10,_65-69.pdf - Published Version
Restricted to Registered users only

Download (54kB) | Request a copy

Abstract

Primary amenorrhea refers to absence of spontaneous menarche even after the age of 16 while in secondary amenorrhea, the condition follows a period of normal menstruation. Cytogenetic data in cases with primary (n=852) (PA) or secondary (n=127) amenorrhea (SA) investigated at the Department of Genetics, Dr. A.L. Mudaliar Post Graduate Institute of Basic Medical Sciences, University of Madras, during the 25-year period 1979 to 2004 was reviewed. Routine GTG-band analysis of metaphases from peripheral blood leucocytes revealed the incidence of chromosomal abnormalities in individuals with PA and SA to be 25.82% and 7.09% respectively. In addition to numerical abnormalities, the various structural aberrations of the X chromosome encountered were deletions, isochromosome for the long arm, translocations and ring chromosomes. Ascertainment of the karyotype aided in confirmation of the provisional diagnosis, a better phenotype-genotype correlation to understand clinical heterogeneity and in genetic counseling

Item Type: Article
Uncontrolled Keywords: Amenorrhea. Ring Chromosomes. Isochromosome. Deletions. Translocations. Phenotype
Subjects: Life Sciences > MLSC Manipal
Depositing User: KMC Manipal
Date Deposited: 31 Jan 2012 06:37
Last Modified: 31 Jan 2012 06:37
URI: http://eprints.manipal.edu/id/eprint/2795

Actions (login required)

View Item View Item