When Edwards meets Klinefelter: a new case of double Aneuploidy

Abstract

The presence of abnormal numbers of a chromosome, known as Aneuploidy, is commonly encountered in the clinical practice of Pediatrics. Although Down syndrome (Trisomy 21) is still the most common example of aneuploidy, rarer forms include Patau syndrome (Trisomy 13), Edward syndrome (Trisomy 18), Turner syndrome (45X0) and Klinefelter syndrome (47XXY). Double aneuploidy, is a rare chromosomal abnormality detected after birth since most reported cases are presented in the form of one lethal aneuploidy and end in early miscarriage.1–3 It is extremely rare to find living newborn cases with double autosomal trisomy or autosomal trisomy with sex chromosome monosomy or trisomy.4,5 Knowing that Edward syndrome and Klinefelter syndrome are relatively common aneuploidies, to date, scant published cases of the double aneuploidy Trisomy 18/XXY have been described in the literature.6 This case report describes a new occurrence of double aneuploidy Edward syndrome/Klinefelter syndrome in a Lebanese baby boy. The present case is the first reported case of double aneuploidy in Lebanon.