You might be wondering what is Trisomy? Trisomy occurs when a person has an extra chromosome in most or all of his or her cells. 47 chromosomes instead of 46. An extra chromosome can cause health problems from mild intellectual and developmental disabilities to severe physical and cognitive problems.
The most common type of trisomy is a condition called Down syndrome. This is also known as Trisomy 21, which occurs when someone has an extra copy of chromosome 21. Trisomy 21 affects 1 in 700 live births in the United States each year. People with Trisomy 21 often have heart abnormalities, higher risks of hearing and vision loss, and other conditions.
Klinefelter syndrome, also known as XXY Trisomy, occurs in 1 in 500-1,000 newborn males. Different types of KS are much more rare, occurring in 1 in 50,000 or fewer.
Triple X Syndrome occurs in about 1 in 1,000 newborn females. Five to Ten girls are born with Triple X Syndrome a day in the U.S. Triple X syndrome is associated with an increase in risk of physical disabilities learning disabilities and delayed development of speech and language skills. Weak muscle tone (hypotonia), delayed development of motor skills (waking and sitting) and behavioral and emotional issues are possible and mainly affect women and girls.
Trisomy 18, is also known as Edwards syndrome and occurs in about 1 in 5,000 live births each year in the U.S. Children born with Trisomy 18 often have slow growth before birth and a low birth weight. Some may have heart defects and abnormalities of other organs. Other features of trisomy 18 include a small, abnormally shaped head; a small jaw and mouth; and clenched fists with overlapping fingers. Due to life threating medical problems, many indiviualds with Trisomy 18 die before birth within their first month. Learn more about Trisomy 18 here.
Trisomy 13 is also known as Patau syndrome, and occurs in about 1 in 10,000 to 16,000 live births each year worldwide. People with Trisomy 13 have heart defects, brain or spinal cord abnormalities, small or poorly developed eyes, extra fingers or toes, an opening in the lip ( a cleft lip ) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Many infants with Trisomy 13 die within their first days or weeks of life. Only 5 to 10 percent of children with this condition live past their first year.
With many different types of Trisomy it is important that we take the time to understand each this month. Together we can bring more awareness to Trisomy.