Turner syndrome due to Xp22.33 deletion with preserved gonadal function: case report

Turner syndrome (TS) is a chromosomal condition affecting 1 in 2000 females characterized by partial or complete loss of one of the X chromosomes. We describe an 11-year-old female who was recently diagnosed with TS. Karyotype revealed a deletion of the distal portion of chromosome X. Chromosome sin...

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Autores principales: D’Ambrosio, Fabiola, Chan, Jacqueline T, Aslam, Hunain, Aguirre Castaneda, Roxana, De Simone, Lenika, Shad, Zohra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6570789/
https://www.ncbi.nlm.nih.gov/pubmed/31214355
http://dx.doi.org/10.1093/omcr/omz028
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author D’Ambrosio, Fabiola
Chan, Jacqueline T
Aslam, Hunain
Aguirre Castaneda, Roxana
De Simone, Lenika
Shad, Zohra
author_facet D’Ambrosio, Fabiola
Chan, Jacqueline T
Aslam, Hunain
Aguirre Castaneda, Roxana
De Simone, Lenika
Shad, Zohra
author_sort D’Ambrosio, Fabiola
collection PubMed
description Turner syndrome (TS) is a chromosomal condition affecting 1 in 2000 females characterized by partial or complete loss of one of the X chromosomes. We describe an 11-year-old female who was recently diagnosed with TS. Karyotype revealed a deletion of the distal portion of chromosome X. Chromosome single nucleotide polymorphism (SNP) array revealed microdeletion of Xp22.33p22.12. Patient reached her menarche at age 11 years. Both the patient and her mother have short stature. Her mother, however, has a normal karyotype. This is one of few case reports of TS with microdeletion of Xp22.33 reported in the literature, with normal ovarian function and possible future transmission of the deletion to the next generations.
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spelling pubmed-65707892019-06-18 Turner syndrome due to Xp22.33 deletion with preserved gonadal function: case report D’Ambrosio, Fabiola Chan, Jacqueline T Aslam, Hunain Aguirre Castaneda, Roxana De Simone, Lenika Shad, Zohra Oxf Med Case Reports Case Report Turner syndrome (TS) is a chromosomal condition affecting 1 in 2000 females characterized by partial or complete loss of one of the X chromosomes. We describe an 11-year-old female who was recently diagnosed with TS. Karyotype revealed a deletion of the distal portion of chromosome X. Chromosome single nucleotide polymorphism (SNP) array revealed microdeletion of Xp22.33p22.12. Patient reached her menarche at age 11 years. Both the patient and her mother have short stature. Her mother, however, has a normal karyotype. This is one of few case reports of TS with microdeletion of Xp22.33 reported in the literature, with normal ovarian function and possible future transmission of the deletion to the next generations. Oxford University Press 2019-05-31 /pmc/articles/PMC6570789/ /pubmed/31214355 http://dx.doi.org/10.1093/omcr/omz028 Text en © The Author(s) 2019. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Case Report
D’Ambrosio, Fabiola
Chan, Jacqueline T
Aslam, Hunain
Aguirre Castaneda, Roxana
De Simone, Lenika
Shad, Zohra
Turner syndrome due to Xp22.33 deletion with preserved gonadal function: case report
title Turner syndrome due to Xp22.33 deletion with preserved gonadal function: case report
title_full Turner syndrome due to Xp22.33 deletion with preserved gonadal function: case report
title_fullStr Turner syndrome due to Xp22.33 deletion with preserved gonadal function: case report
title_full_unstemmed Turner syndrome due to Xp22.33 deletion with preserved gonadal function: case report
title_short Turner syndrome due to Xp22.33 deletion with preserved gonadal function: case report
title_sort turner syndrome due to xp22.33 deletion with preserved gonadal function: case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6570789/
https://www.ncbi.nlm.nih.gov/pubmed/31214355
http://dx.doi.org/10.1093/omcr/omz028
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