Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)

We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a maternally-inherited balanced translocation between chromosomes 4 and 16 and mosaicism of the isochromosome Xq10. Her karyotype was 45,X,t(4;16) (p15.2;p13.1)[9]/46,X,i(X) (q10),t(4;16)(p15.2;p13.1) [91]....

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Autores principales: Cetin, Z, Mendilcioglu, I, Yakut, S, Berker-Karauzum, S, Karaman, B, Luleci, G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Macedonian Science of Sciences and Arts 2011
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776687/
https://www.ncbi.nlm.nih.gov/pubmed/24052704
http://dx.doi.org/10.2478/v10034-011-0019-y
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author Cetin, Z
Mendilcioglu, I
Yakut, S
Berker-Karauzum, S
Karaman, B
Luleci, G
author_facet Cetin, Z
Mendilcioglu, I
Yakut, S
Berker-Karauzum, S
Karaman, B
Luleci, G
author_sort Cetin, Z
collection PubMed
description We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a maternally-inherited balanced translocation between chromosomes 4 and 16 and mosaicism of the isochromosome Xq10. Her karyotype was 45,X,t(4;16) (p15.2;p13.1)[9]/46,X,i(X) (q10),t(4;16)(p15.2;p13.1) [91]. The karyotype of her father was normal, whereas that of her mother had the same balanced translocation and numerical abnormalities of chromosome X and was designated as 45,X,t(4;16)(p15.2;p13.1) [2]/46,XX,t(4;16)(p15.2;p13.1)[93]/47,XXX,t(4;16) (p15.2; p13.1)[5]. The two siblings of the patient also had the same reciprocal translocation. We consider this to be the first such patient with an inherited reciprocal translocation and structural abnormality of the X chromosome (isochromosome Xq).
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spelling pubmed-37766872013-09-19 Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1) Cetin, Z Mendilcioglu, I Yakut, S Berker-Karauzum, S Karaman, B Luleci, G Balkan J Med Genet Short Communication We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a maternally-inherited balanced translocation between chromosomes 4 and 16 and mosaicism of the isochromosome Xq10. Her karyotype was 45,X,t(4;16) (p15.2;p13.1)[9]/46,X,i(X) (q10),t(4;16)(p15.2;p13.1) [91]. The karyotype of her father was normal, whereas that of her mother had the same balanced translocation and numerical abnormalities of chromosome X and was designated as 45,X,t(4;16)(p15.2;p13.1) [2]/46,XX,t(4;16)(p15.2;p13.1)[93]/47,XXX,t(4;16) (p15.2; p13.1)[5]. The two siblings of the patient also had the same reciprocal translocation. We consider this to be the first such patient with an inherited reciprocal translocation and structural abnormality of the X chromosome (isochromosome Xq). Macedonian Science of Sciences and Arts 2011-06 2011-07-25 /pmc/articles/PMC3776687/ /pubmed/24052704 http://dx.doi.org/10.2478/v10034-011-0019-y 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 Short Communication
Cetin, Z
Mendilcioglu, I
Yakut, S
Berker-Karauzum, S
Karaman, B
Luleci, G
Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)
title Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)
title_full Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)
title_fullStr Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)
title_full_unstemmed Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)
title_short Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)
title_sort turner syndrome with isochromosome xq and familial reciprocal translocation t(4;16)(p15.2;p13.1)
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776687/
https://www.ncbi.nlm.nih.gov/pubmed/24052704
http://dx.doi.org/10.2478/v10034-011-0019-y
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