A case report of a man with Klinefelter Syndrome having healthy two Neonates with normal karyotype

Backgrounds: Klinefelter syndrome also known as ۴۷, XXY is one of the most prevalentchromosomal abnormalities among men. Infertility could be named as one of the most primaryfeatures of this health condition. At the same time, there are some other associated aspects likethin and tall appearance, absent, delayed or incomplete puberty, small and firm testicles, smallpenis, and gynecomastia.Materials and Methods: Blood sample from patient was tested by conventional G-bandingKaryotype test. Separately, two different expert lab technicians analyzed and interpreted all thespreads, and finally, the abnormal result was recorded.Results: This study reports a mosaic Klinefelter patient whose karyotype consisted of ۴۷,XXY/۴۶, XY. The only complaint of this couple was two miscarriages, followed by a boy with anormal karyotype who was born who had only taller than the average at the age of two andnormal girl.Conclusion: Being mosaic KS dramatically increases the chances of having healthy offspringwith normal genetic patterns compared to males who had complete KS, and these people canhope to have healthy children without performing artificial insemination methods such as IVF.

Keywords:

Klinefelter syndrome , Chromosomal abnormality , Recurrent abortion