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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2012
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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. |
format | Online Article Text |
id | pubmed-3385165 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
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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