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

Autor:	Alallah J; Pediatrics, Neonatology, King Saud Bin Abdulaziz University for Health Sciences College of Medicine, Jeddah, SAU.; Pediatrics, Neonatology, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU.; Pediatrics, Neonatology, King Khalid Medical City, National Guard Hospital, Jeddah, SAU., Habhab S; Pediatrics, King Saud Bin Abdulaziz University for Health Sciences College of Medicine, Jeddah, SAU., Mohtisham F; Pediatrics, King Abdulaziz Medical City Riyadh, Jeddah, SAU., Shawli A; Pediatrics, King Saud Bin Abdulaziz University for Health Sciences College of Medicine, Jeddah, SAU., Daghistani M; Pathology and Laboratory Medicine, King Saud Bin Abdulaziz University for Health Sciences College of Medicine, Jeddah, SAU.
Jazyk:	angličtina
Zdroj:	Cureus [Cureus] 2022 Apr 28; Vol. 14 (4), pp. e24561. Date of Electronic Publication: 2022 Apr 28 (Print Publication: 2022).
DOI:	10.7759/cureus.24561
Abstrakt:	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. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2022, Alallah et al.)
Databáze:	MEDLINE
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