Indian Journal of Human Genetics
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Year : 2012  |  Volume : 18  |  Issue : 1  |  Page : 112-116

Cytogenetic investigation of patients with primary amenorrhea

1 Molecular Biology and Cytogenetics Lab, Apollo Hospitals, Jubilee Hills, Hyderabad, India
2 Department of Endocrinology, Apollo Hospitals, Hyderabad, India

Correspondence Address:
Kalal I Goud
HOD/ Consultant, Molecular Biology and Cytogenetics Lab, Apollo Health City, Jubilee Hills, Hyderabad - 500 033
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0971-6866.96676

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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.

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