PriMera Scientific Surgical Research and Practice (ISSN: 2836-0028)

Case Report

Volume 5 Issue 1

Case Report: Down-Klinefelter Syndrome in A Saudi Child

Osama Mohammed Alnasser*, Saleh Ali Hassan Almanea, Nasser Musfirah Alsalem, Ahmed M Alzweihry, Aziza Abdalla Hussein Adam, Fawzia Jameel Alqubaei and Rabah Ahmed alaqeel

December 19, 2024

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Abstract

Down-Klinefelter Syndrome is an exceptionally rare chromosomal disorder that arises from the coexistence of two distinct genetic anomalies: Down syndrome (trisomy 21) and Klinefelter syndrome (47, XXY). The patient is a 3-year-old male with a rare and complex chromosomal condition resulting from mosaic Down syndrome and Klinefelter syndrome (48, XXY+21). The child has a history of congenital heart disease (CHD), which necessitated surgical intervention. Post-surgical recovery has been complicated, including significant morbidity such as a left foot amputation caused by a crossed vasoconstriction reflex. The patient underwent several investigations to elucidate the extent of their complex medical issues. A Doppler ultrasound revealed limited arterial flow in the left lower limb post-ECMO, with only partial arterial signals detected. Down-Klinefelter syndrome is a rare chromosomal abnormality that combines features of Down syndrome and Klinefelter syndrome. Documented complications include hypothyroidism, infantile spasms, gastrointestinal dysfunction, and congenital heart disease. To date, more than 70 cases of double aneuploidy have been reported in the literature.

Keywords: Patients; Down sindrome; Chromosomal; Disorder; Genetic abnormality

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