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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. 18, No. 1, 2012, pp. 112-116
Bioline Code: hg12021
Full paper language: English
Document type: Case Report
Document available free of charge

Indian Journal of Human Genetics, Vol. 18, No. 1, 2012, pp. 112-116

 en Cytogenetic investigation of patients with primary amenorrhea
Laxmi, K Vijaya.; Babu, S J.; Dayakar, S; Mehrothra, R N. & Goud, Kalal I.


Primary amenorrhea refers to absence of spontaneous menarche even after the age of 16. Cytogenetic analysis in two cases with primary amenorrhea, short stature, poorly developed secondary sexual characteristics, and growth retardation were studied. Routine GTG-band analysis of metaphases from peripheral blood leucocytes revealed female karyotype with a 15(ps+) and an isochromosome of X, i(Xq), in one patient and 46,X, i(Xq), in another patient. Ascertainment of the karyotype aided in confirmation of the provisional diagnosis, a better phenotype-genotype correlation to understand clinical heterogeneity in genetic counseling.

Amenorrhea, isochromosome X, short stature, turner syndrome

© Copyright 2012 Indian Journal of Human Genetics.
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