Constitutional chromosome abnormalities

The importance in Spectral Karyotyping (SKY)

“…Examples include Edwards's syndrome (trisomy 18), Patau syndrome (trisomy 13), Klinefelter and triple X syndromes (when an extra X chromosome is present), Turner syndrome, and Down syndrome (trisomy 21). It is important to note that Klinefelter syndrome affects males, while triple syndrome affects females [49]. Acquired chromosomal abnormalities affect the person throughout life and are usually limited to a specific type of tissue [50].…”