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Cytogenetic investigation of patients with primary amenorrhea

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 periph...

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Autores principales: Laxmi, K. Vijaya, Babu, S. J., Dayakar, S., Mehrothra, R. N., Goud, Kalal I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3385165/
https://www.ncbi.nlm.nih.gov/pubmed/22754234
http://dx.doi.org/10.4103/0971-6866.96676
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author Laxmi, K. Vijaya
Babu, S. J.
Dayakar, S.
Mehrothra, R. N.
Goud, Kalal I.
author_facet Laxmi, K. Vijaya
Babu, S. J.
Dayakar, S.
Mehrothra, R. N.
Goud, Kalal I.
author_sort Laxmi, K. Vijaya
collection PubMed
description 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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spelling pubmed-33851652012-07-02 Cytogenetic investigation of patients with primary amenorrhea Laxmi, K. Vijaya Babu, S. J. Dayakar, S. Mehrothra, R. N. Goud, Kalal I. Indian J Hum Genet Case Report 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. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3385165/ /pubmed/22754234 http://dx.doi.org/10.4103/0971-6866.96676 Text en Copyright: © Indian Journal of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Laxmi, K. Vijaya
Babu, S. J.
Dayakar, S.
Mehrothra, R. N.
Goud, Kalal I.
Cytogenetic investigation of patients with primary amenorrhea
title Cytogenetic investigation of patients with primary amenorrhea
title_full Cytogenetic investigation of patients with primary amenorrhea
title_fullStr Cytogenetic investigation of patients with primary amenorrhea
title_full_unstemmed Cytogenetic investigation of patients with primary amenorrhea
title_short Cytogenetic investigation of patients with primary amenorrhea
title_sort cytogenetic investigation of patients with primary amenorrhea
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3385165/
https://www.ncbi.nlm.nih.gov/pubmed/22754234
http://dx.doi.org/10.4103/0971-6866.96676
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