Down-Klinefelter Syndrome (48,XXY,+21) in a Saudi Neonate: A Case Report and Literature Review

Aneuploidy is a category of chromosomal abnormalities involving a numerical abnormality of the chromosomes. The most common type seen in live-born babies is trisomy. Double aneuploidy that leads to trisomy of two different chromosomes occurs due to accidental meiotic nondisjunction events; both can...

Descripción completa

Detalles Bibliográficos
Autores principales: Alallah, Jubara, Habhab, Sohaib, Mohtisham, Farzeen, Shawli, Aiman, Daghistani, Mustafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9148193/
https://www.ncbi.nlm.nih.gov/pubmed/35664411
http://dx.doi.org/10.7759/cureus.24561
_version_ 1784716991698829312
author Alallah, Jubara
Habhab, Sohaib
Mohtisham, Farzeen
Shawli, Aiman
Daghistani, Mustafa
author_facet Alallah, Jubara
Habhab, Sohaib
Mohtisham, Farzeen
Shawli, Aiman
Daghistani, Mustafa
author_sort Alallah, Jubara
collection PubMed
description Aneuploidy is a category of chromosomal abnormalities involving a numerical abnormality of the chromosomes. The most common type seen in live-born babies is trisomy. Double aneuploidy that leads to trisomy of two different chromosomes occurs due to accidental meiotic nondisjunction events; both can have the same or a different parental origin. Other frequently found double aneuploidies include 48,XXX,+21; 48,XXY,+18, and 48,XXX,+18. Here, we report the case of double aneuploidy (Down-Klinefelter syndrome) in a Saudi newborn with the clinical features of Down syndrome, along with hypothyroidism and congenital heart disease, who was admitted to our neonatal intensive care unit. To our knowledge, this is the first case of its kind reported from the Kingdom of Saudi Arabia.
format Online
Article
Text
id pubmed-9148193
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Cureus
record_format MEDLINE/PubMed
spelling pubmed-91481932022-06-02 Down-Klinefelter Syndrome (48,XXY,+21) in a Saudi Neonate: A Case Report and Literature Review Alallah, Jubara Habhab, Sohaib Mohtisham, Farzeen Shawli, Aiman Daghistani, Mustafa Cureus Genetics Aneuploidy is a category of chromosomal abnormalities involving a numerical abnormality of the chromosomes. The most common type seen in live-born babies is trisomy. Double aneuploidy that leads to trisomy of two different chromosomes occurs due to accidental meiotic nondisjunction events; both can have the same or a different parental origin. Other frequently found double aneuploidies include 48,XXX,+21; 48,XXY,+18, and 48,XXX,+18. Here, we report the case of double aneuploidy (Down-Klinefelter syndrome) in a Saudi newborn with the clinical features of Down syndrome, along with hypothyroidism and congenital heart disease, who was admitted to our neonatal intensive care unit. To our knowledge, this is the first case of its kind reported from the Kingdom of Saudi Arabia. Cureus 2022-04-28 /pmc/articles/PMC9148193/ /pubmed/35664411 http://dx.doi.org/10.7759/cureus.24561 Text en Copyright © 2022, Alallah et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Alallah, Jubara
Habhab, Sohaib
Mohtisham, Farzeen
Shawli, Aiman
Daghistani, Mustafa
Down-Klinefelter Syndrome (48,XXY,+21) in a Saudi Neonate: A Case Report and Literature Review
title Down-Klinefelter Syndrome (48,XXY,+21) in a Saudi Neonate: A Case Report and Literature Review
title_full Down-Klinefelter Syndrome (48,XXY,+21) in a Saudi Neonate: A Case Report and Literature Review
title_fullStr Down-Klinefelter Syndrome (48,XXY,+21) in a Saudi Neonate: A Case Report and Literature Review
title_full_unstemmed Down-Klinefelter Syndrome (48,XXY,+21) in a Saudi Neonate: A Case Report and Literature Review
title_short Down-Klinefelter Syndrome (48,XXY,+21) in a Saudi Neonate: A Case Report and Literature Review
title_sort down-klinefelter syndrome (48,xxy,+21) in a saudi neonate: a case report and literature review
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9148193/
https://www.ncbi.nlm.nih.gov/pubmed/35664411
http://dx.doi.org/10.7759/cureus.24561
work_keys_str_mv AT alallahjubara downklinefeltersyndrome48xxy21inasaudineonateacasereportandliteraturereview
AT habhabsohaib downklinefeltersyndrome48xxy21inasaudineonateacasereportandliteraturereview
AT mohtishamfarzeen downklinefeltersyndrome48xxy21inasaudineonateacasereportandliteraturereview
AT shawliaiman downklinefeltersyndrome48xxy21inasaudineonateacasereportandliteraturereview
AT daghistanimustafa downklinefeltersyndrome48xxy21inasaudineonateacasereportandliteraturereview

Ejemplares similares