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Triple X Egyptian woman and a Down's syndrome offspring

The 47, XXX karyotype (triple X) has a frequency of 1 in 1000 female newborns. However, this karyotype is not usually suspected at birth or childhood. Female patients with a sex chromosome abnormality may be fertile. In patients with a 47, XXX cell line there appears to be an increased risk of a cyt...

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Autor principal: El-Dahtory, Faeza Abdel Mogib
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722621/
https://www.ncbi.nlm.nih.gov/pubmed/23901206
http://dx.doi.org/10.4103/0971-6866.112925
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author El-Dahtory, Faeza Abdel Mogib
author_facet El-Dahtory, Faeza Abdel Mogib
author_sort El-Dahtory, Faeza Abdel Mogib
collection PubMed
description The 47, XXX karyotype (triple X) has a frequency of 1 in 1000 female newborns. However, this karyotype is not usually suspected at birth or childhood. Female patients with a sex chromosome abnormality may be fertile. In patients with a 47, XXX cell line there appears to be an increased risk of a cytogenetically abnormal child but the extent of this risk cannot yet be determined; it is probably lower in the non-mosaic 47, XXX patient than the mosaic 46, XX/47, XXX one. We describe a new rare case of triple X woman and a Down's syndrome offspring. The patient is 26 years of age. She is a housewife, her height is 160 cm and weight is 68 kg and her physical features and mentality are normal. She has had one pregnancy at the age of 25 years resulted in a girl with Down's syndrome. The child had 47 chromosomes with trisomy 21 (47, XX, +21) Figure 1. The patient also has 47 chromosomes with a triple X karyotype (47, XX, +X) Figure 2. The patient's husband (27 years old) is physically and mentally normal. He has 46 chromosomes with a normal XY karyotype (46, XY). There are neither Consanguinity between her parent's nor she and her husband.
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spelling pubmed-37226212013-07-30 Triple X Egyptian woman and a Down's syndrome offspring El-Dahtory, Faeza Abdel Mogib Indian J Hum Genet Case Report The 47, XXX karyotype (triple X) has a frequency of 1 in 1000 female newborns. However, this karyotype is not usually suspected at birth or childhood. Female patients with a sex chromosome abnormality may be fertile. In patients with a 47, XXX cell line there appears to be an increased risk of a cytogenetically abnormal child but the extent of this risk cannot yet be determined; it is probably lower in the non-mosaic 47, XXX patient than the mosaic 46, XX/47, XXX one. We describe a new rare case of triple X woman and a Down's syndrome offspring. The patient is 26 years of age. She is a housewife, her height is 160 cm and weight is 68 kg and her physical features and mentality are normal. She has had one pregnancy at the age of 25 years resulted in a girl with Down's syndrome. The child had 47 chromosomes with trisomy 21 (47, XX, +21) Figure 1. The patient also has 47 chromosomes with a triple X karyotype (47, XX, +X) Figure 2. The patient's husband (27 years old) is physically and mentally normal. He has 46 chromosomes with a normal XY karyotype (46, XY). There are neither Consanguinity between her parent's nor she and her husband. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3722621/ /pubmed/23901206 http://dx.doi.org/10.4103/0971-6866.112925 Text en Copyright: © Indian Journal of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-accses 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
El-Dahtory, Faeza Abdel Mogib
Triple X Egyptian woman and a Down's syndrome offspring
title Triple X Egyptian woman and a Down's syndrome offspring
title_full Triple X Egyptian woman and a Down's syndrome offspring
title_fullStr Triple X Egyptian woman and a Down's syndrome offspring
title_full_unstemmed Triple X Egyptian woman and a Down's syndrome offspring
title_short Triple X Egyptian woman and a Down's syndrome offspring
title_sort triple x egyptian woman and a down's syndrome offspring
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722621/
https://www.ncbi.nlm.nih.gov/pubmed/23901206
http://dx.doi.org/10.4103/0971-6866.112925
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