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Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, with One also Having Trisomy 21, in Three Pregnancies in One Family
The majority of chromosome rearrangements are balanced reciprocal and Robertsonian translocations. It is now known that such abnormalities cause no phenotypic effect on the carrier but lead to increased risk of producing unbalanced gametes. Here, we report the inheritance of a translocation between...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Macedonian Science of Sciences and Arts
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001423/ https://www.ncbi.nlm.nih.gov/pubmed/24778571 http://dx.doi.org/10.2478/bjmg-2013-0039 |
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author | Pazarbasi, A Demirhan, O Alptekin, D Ozgunen, FT Ozpak, L Yilmaz, MB Nazlican, E Tanriverdi, N Luleyap, U Gümürdülü, D |
author_facet | Pazarbasi, A Demirhan, O Alptekin, D Ozgunen, FT Ozpak, L Yilmaz, MB Nazlican, E Tanriverdi, N Luleyap, U Gümürdülü, D |
author_sort | Pazarbasi, A |
collection | PubMed |
description | The majority of chromosome rearrangements are balanced reciprocal and Robertsonian translocations. It is now known that such abnormalities cause no phenotypic effect on the carrier but lead to increased risk of producing unbalanced gametes. Here, we report the inheritance of a translocation between chromosomes 3 and 21 in a family with one of two fetuses with Down Syndrome carrying the same translocation and the other also carrying the same translocation without the additional chromosome 21. Chromosomal analysis from fetal amniotic fluid and peripheral blood lymphocytes from the family were performed at the Çukurova University Hospital at Adana, Turkey. We assessed a family in which the translocation between chromosomes 3 and 21 segregates: one of the three progenies carried the 47,XX,+21,t(3;21)(q21;q22) karyotype and presented with Down Syndrome; another of the three progenies carried the 46,XX,t(3;21) (q21;q22) karyotype and the third had the 46,XY karyotype. Their mother is phenotypically normal. Apparently this rearrangement occurred due to an unbalanced chromosome segregation of the mother [t(3;21)(q21;q22)mat]. This family will enable us to explain the behavior of segregation patterns and the mechanism for each type of translocation from carrier to carrier and their effects on reproduction and numerical aberrations. These findings can be used in clinical genetics and may be used as an effective tool for reproductive guidance and genetic counseling. |
format | Online Article Text |
id | pubmed-4001423 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Macedonian Science of Sciences and Arts |
record_format | MEDLINE/PubMed |
spelling | pubmed-40014232014-04-28 Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, with One also Having Trisomy 21, in Three Pregnancies in One Family Pazarbasi, A Demirhan, O Alptekin, D Ozgunen, FT Ozpak, L Yilmaz, MB Nazlican, E Tanriverdi, N Luleyap, U Gümürdülü, D Balkan J Med Genet Case Report The majority of chromosome rearrangements are balanced reciprocal and Robertsonian translocations. It is now known that such abnormalities cause no phenotypic effect on the carrier but lead to increased risk of producing unbalanced gametes. Here, we report the inheritance of a translocation between chromosomes 3 and 21 in a family with one of two fetuses with Down Syndrome carrying the same translocation and the other also carrying the same translocation without the additional chromosome 21. Chromosomal analysis from fetal amniotic fluid and peripheral blood lymphocytes from the family were performed at the Çukurova University Hospital at Adana, Turkey. We assessed a family in which the translocation between chromosomes 3 and 21 segregates: one of the three progenies carried the 47,XX,+21,t(3;21)(q21;q22) karyotype and presented with Down Syndrome; another of the three progenies carried the 46,XX,t(3;21) (q21;q22) karyotype and the third had the 46,XY karyotype. Their mother is phenotypically normal. Apparently this rearrangement occurred due to an unbalanced chromosome segregation of the mother [t(3;21)(q21;q22)mat]. This family will enable us to explain the behavior of segregation patterns and the mechanism for each type of translocation from carrier to carrier and their effects on reproduction and numerical aberrations. These findings can be used in clinical genetics and may be used as an effective tool for reproductive guidance and genetic counseling. Macedonian Science of Sciences and Arts 2013-12 2013-11-03 /pmc/articles/PMC4001423/ /pubmed/24778571 http://dx.doi.org/10.2478/bjmg-2013-0039 Text en © Macedonian Academy of Sciences and Arts This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivs license (http://creativecommons.org/licenses/by-nc-nd/3.0/), which means that the text may be used for non-commercial purposes, provided credit is given to the author. |
spellingShingle | Case Report Pazarbasi, A Demirhan, O Alptekin, D Ozgunen, FT Ozpak, L Yilmaz, MB Nazlican, E Tanriverdi, N Luleyap, U Gümürdülü, D Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, with One also Having Trisomy 21, in Three Pregnancies in One Family |
title | Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, with One also Having Trisomy 21, in Three Pregnancies in One Family |
title_full | Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, with One also Having Trisomy 21, in Three Pregnancies in One Family |
title_fullStr | Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, with One also Having Trisomy 21, in Three Pregnancies in One Family |
title_full_unstemmed | Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, with One also Having Trisomy 21, in Three Pregnancies in One Family |
title_short | Inheritance of a Chromosome 3 and 21 Translocation in the Fetuses, with One also Having Trisomy 21, in Three Pregnancies in One Family |
title_sort | inheritance of a chromosome 3 and 21 translocation in the fetuses, with one also having trisomy 21, in three pregnancies in one family |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001423/ https://www.ncbi.nlm.nih.gov/pubmed/24778571 http://dx.doi.org/10.2478/bjmg-2013-0039 |
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