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Homozygosity for a Robertsonian Translocation (13q;14q) in a Phenotypically Normal 44, XX Female with a History of Recurrent Abortion and a Normal Pregnancy Outcome
BACKGROUND: Robertsonian translocations are structural chromosomal abnormalities caused by fusion of two acrocentric chromosomes. In carriers of such translocations, different modes of segregations would result in the formation of either balanced (alternate segregation mode) or unbalanced (adjacent...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Avicenna Research Institute
2016
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947207/ https://www.ncbi.nlm.nih.gov/pubmed/27478773 |
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author | Miryounesi, Mohammad Diantpour, Mehdi Motevaseli, Elahe Ghafouri-Fard, Soudeh |
author_facet | Miryounesi, Mohammad Diantpour, Mehdi Motevaseli, Elahe Ghafouri-Fard, Soudeh |
author_sort | Miryounesi, Mohammad |
collection | PubMed |
description | BACKGROUND: Robertsonian translocations are structural chromosomal abnormalities caused by fusion of two acrocentric chromosomes. In carriers of such translocations, different modes of segregations would result in the formation of either balanced (alternate segregation mode) or unbalanced (adjacent 1, adjacent 2, and 3:1 segregation modes) gametes. In addition, there is an increased risk for imprinting disorders in their offspring. Although it has been estimated that 1/1000 healthy persons carry a Robertsonian translocation, homozygosity for this type of structural chromosomal abnormality has been reported rarely. Most of reported cases are phenotypically normal but experience adverse pregnancy outcomes. CASE PRESENTATION: In this paper, a report was made on a normal female with a history of 4 consecutive first trimester fetal losses and a normal son referred to Center for Comprehensive Genetics Services, Tehran, Iran, in summer 2015. Cytogenetic analyses of proband and her infant showed 44, XX, der(13;14) (q10;q10)x2 and 45, XY, der(13;14)(q10;q10), respectively. Parents of proband have been shown to have 45, XY, der(13q;14q) and 45, XX, der(13q;14q) karyotypes, respectively. CONCLUSION: The present report was in agreement with the few reports of homozygosity for Robertsonian translocation which demonstrated normal phenotypes for such persons and possibility of giving birth to phenotypically normal heterozygote carriers of Robertsonian translocations. |
format | Online Article Text |
id | pubmed-4947207 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Avicenna Research Institute |
record_format | MEDLINE/PubMed |
spelling | pubmed-49472072016-07-29 Homozygosity for a Robertsonian Translocation (13q;14q) in a Phenotypically Normal 44, XX Female with a History of Recurrent Abortion and a Normal Pregnancy Outcome Miryounesi, Mohammad Diantpour, Mehdi Motevaseli, Elahe Ghafouri-Fard, Soudeh J Reprod Infertil Case Report BACKGROUND: Robertsonian translocations are structural chromosomal abnormalities caused by fusion of two acrocentric chromosomes. In carriers of such translocations, different modes of segregations would result in the formation of either balanced (alternate segregation mode) or unbalanced (adjacent 1, adjacent 2, and 3:1 segregation modes) gametes. In addition, there is an increased risk for imprinting disorders in their offspring. Although it has been estimated that 1/1000 healthy persons carry a Robertsonian translocation, homozygosity for this type of structural chromosomal abnormality has been reported rarely. Most of reported cases are phenotypically normal but experience adverse pregnancy outcomes. CASE PRESENTATION: In this paper, a report was made on a normal female with a history of 4 consecutive first trimester fetal losses and a normal son referred to Center for Comprehensive Genetics Services, Tehran, Iran, in summer 2015. Cytogenetic analyses of proband and her infant showed 44, XX, der(13;14) (q10;q10)x2 and 45, XY, der(13;14)(q10;q10), respectively. Parents of proband have been shown to have 45, XY, der(13q;14q) and 45, XX, der(13q;14q) karyotypes, respectively. CONCLUSION: The present report was in agreement with the few reports of homozygosity for Robertsonian translocation which demonstrated normal phenotypes for such persons and possibility of giving birth to phenotypically normal heterozygote carriers of Robertsonian translocations. Avicenna Research Institute 2016 /pmc/articles/PMC4947207/ /pubmed/27478773 Text en Copyright© 2016, Avicenna Research Institute. This work is licensed under a Creative Commons Attribution-NonCommercial 3.0 Unported License which allows users to read, copy, distribute and make derivative works for non-commercial purposes from the material, as long as the author of the original work is cited properly. |
spellingShingle | Case Report Miryounesi, Mohammad Diantpour, Mehdi Motevaseli, Elahe Ghafouri-Fard, Soudeh Homozygosity for a Robertsonian Translocation (13q;14q) in a Phenotypically Normal 44, XX Female with a History of Recurrent Abortion and a Normal Pregnancy Outcome |
title | Homozygosity for a Robertsonian Translocation (13q;14q) in a Phenotypically Normal 44, XX Female with a History of Recurrent Abortion and a Normal Pregnancy Outcome |
title_full | Homozygosity for a Robertsonian Translocation (13q;14q) in a Phenotypically Normal 44, XX Female with a History of Recurrent Abortion and a Normal Pregnancy Outcome |
title_fullStr | Homozygosity for a Robertsonian Translocation (13q;14q) in a Phenotypically Normal 44, XX Female with a History of Recurrent Abortion and a Normal Pregnancy Outcome |
title_full_unstemmed | Homozygosity for a Robertsonian Translocation (13q;14q) in a Phenotypically Normal 44, XX Female with a History of Recurrent Abortion and a Normal Pregnancy Outcome |
title_short | Homozygosity for a Robertsonian Translocation (13q;14q) in a Phenotypically Normal 44, XX Female with a History of Recurrent Abortion and a Normal Pregnancy Outcome |
title_sort | homozygosity for a robertsonian translocation (13q;14q) in a phenotypically normal 44, xx female with a history of recurrent abortion and a normal pregnancy outcome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947207/ https://www.ncbi.nlm.nih.gov/pubmed/27478773 |
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