Sex chromosome anomalies

Sex chromosome anomalies belong to a group of genetic conditions that are caused or affected by the loss, damage or addition of one or both sex chromosomes (also called gonosomes).

In humans this may refer to:

• 45, X, also known as Turner syndrome
• 45,X/46,XY mosaicism, also known as X0/XY mosaicism and mixed gonadal dysgenesis
• 46, XX/XY
• 47, XXX, also known as Triple X syndrome and trisomy X
• 47, XXY, also known as Klinefelter syndrome
• 47, XYY, also known as Jacobs syndrome
• 48, XXXX, also known as tetrasomy X
• 48, XXXY
• 48, XXYY
• 48, XYYY
• 49, XXXXY
• 49, XYYYY
• 49, XXXXX, also known as pentasomy X
• XX gonadal dysgenesis
• XY gonadal dysgenesis, also known as Swyer syndrome
• XX male syndrome, also known as de la Chapelle syndrome