What are X&Y chromosome variations?
X&Y chromosome variations refer to conditions in which a child has an abnormal number of sex chromosomes, also known as X&Y chromosomes.
Other words used to describe X&Y chromosome variations are “sex chromosome anomaly,” “sex chromosome abnormality” and “sex chromosome aneuploidy.”
How do X&Y chromosome variations affect boys and girls?
Males usually have one X and one Y chromosome, and females usually have two X chromosomes. Occasionally, because of problems with the formation of a parent’s sperm or egg, a child can be born with extra or too few sex chromosomes.
For reasons we don’t completely understand, children with X&Y chromosome variation can also have developmental delays, intellectual disability and autism spectrum disorders. Boys with extra X chromosomes need to be seen by an endocrinologist during puberty to help balance their testosterone levels.
Specific forms of sex chromosome variations include:
|X&Y chromosome variations in males
||X chromosome variations in females
|47,XXY (Klinefelter syndrome)
||45,X (Turner syndrome)
||47,XXX (Trisomy X or Triple X)
||48,XXXX (Tetrasomy X)
||49,XXXXX (Pentasomy X)
What causes sex chromosome variations?
Children are born with X&Y chromosome variations. These conditions are caused by a problem in the division of the X and Y chromosomes during the formation of a parent’s egg or the sperm, which are then involved in conception. The exact cause is unknown, and these conditions are typically not inherited.
For more information or to make an appointment at the eXtraordinarY Kids Clinic, please call 720-777-8361 or send us an email.