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Decoding enigma: Turner syndrome with ring chromosome

Ring chromosome X is one of the rarest with some unique phenotypical features in Turner syndrome. A young female presented to us with anasarca developed over the past 2 months due to congestive cardiac failure along with jaundice and orthopnea. She had growth retardation, intellectual disability, pr...

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Autores principales: Das, Debarup, Roy, Debaditya, Basu, Kaushik, Sarkar, Anupam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8713580/
https://www.ncbi.nlm.nih.gov/pubmed/34987848
http://dx.doi.org/10.1093/omcr/omab111
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author Das, Debarup
Roy, Debaditya
Basu, Kaushik
Sarkar, Anupam
author_facet Das, Debarup
Roy, Debaditya
Basu, Kaushik
Sarkar, Anupam
author_sort Das, Debarup
collection PubMed
description Ring chromosome X is one of the rarest with some unique phenotypical features in Turner syndrome. A young female presented to us with anasarca developed over the past 2 months due to congestive cardiac failure along with jaundice and orthopnea. She had growth retardation, intellectual disability, primary amenorrhea, lack of secondary sexual character development and dysmorphic features like low posterior hairline, shield chest and cubitus valgus. She had dilated cardiomyopathy (DCM) with intracardiac thrombus on echocardiography. Skeletal survey revealed short fourth metacarpal/tarsal on limbs. Karyotyping showed a mosaic pattern, with 45, X/46, X,r(X)(p22.3q28), i.e. Turner syndrome karyotype with ring chromosome. Her heart failure with reduced ejection fraction was managed with vasopressor along with anticoagulant and given oral contraceptive pills for hormone replacement therapy. The ring chromosomal pattern of karyotype in this patient and DCM is a rare cardiological phenomenon that can be associated with Turner syndrome, making this case a unique one.
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spelling pubmed-87135802022-01-04 Decoding enigma: Turner syndrome with ring chromosome Das, Debarup Roy, Debaditya Basu, Kaushik Sarkar, Anupam Oxf Med Case Reports Case Report Ring chromosome X is one of the rarest with some unique phenotypical features in Turner syndrome. A young female presented to us with anasarca developed over the past 2 months due to congestive cardiac failure along with jaundice and orthopnea. She had growth retardation, intellectual disability, primary amenorrhea, lack of secondary sexual character development and dysmorphic features like low posterior hairline, shield chest and cubitus valgus. She had dilated cardiomyopathy (DCM) with intracardiac thrombus on echocardiography. Skeletal survey revealed short fourth metacarpal/tarsal on limbs. Karyotyping showed a mosaic pattern, with 45, X/46, X,r(X)(p22.3q28), i.e. Turner syndrome karyotype with ring chromosome. Her heart failure with reduced ejection fraction was managed with vasopressor along with anticoagulant and given oral contraceptive pills for hormone replacement therapy. The ring chromosomal pattern of karyotype in this patient and DCM is a rare cardiological phenomenon that can be associated with Turner syndrome, making this case a unique one. Oxford University Press 2021-12-28 /pmc/articles/PMC8713580/ /pubmed/34987848 http://dx.doi.org/10.1093/omcr/omab111 Text en © The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com https://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 (https://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
Das, Debarup
Roy, Debaditya
Basu, Kaushik
Sarkar, Anupam
Decoding enigma: Turner syndrome with ring chromosome
title Decoding enigma: Turner syndrome with ring chromosome
title_full Decoding enigma: Turner syndrome with ring chromosome
title_fullStr Decoding enigma: Turner syndrome with ring chromosome
title_full_unstemmed Decoding enigma: Turner syndrome with ring chromosome
title_short Decoding enigma: Turner syndrome with ring chromosome
title_sort decoding enigma: turner syndrome with ring chromosome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8713580/
https://www.ncbi.nlm.nih.gov/pubmed/34987848
http://dx.doi.org/10.1093/omcr/omab111
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