Trisomy

How does Trisomy affect a child?

Trisomy
Most people have 46 chromosomes, in 23 pairs, but some have an extra copy of one chromosome. This is called a trisomy because there are three of one chromsome pair. Having an extra chromosome can lead to a variety of abnormalities that can be quite severe.

Trisomy 13
Trisomy 13 occurs when a person receives an third chromosome 13, instead of two. Trisomy 13 occurs in approximately 1 out of 5,000 live births and causes multiple abnormalities that are often not compatible with life. Unfotunately, 80% of babies that are diagnosed with the condition will die during their first month of life. Babies that have this condition usually have severe mental retardation, seizures, a small head, small eyes, scalp defects, cleft lip/palate, eye defects, extra fingers or toes, ear defects, hernias, undescended testicles and skeletal defects. Babies may also suffer with breathing difficulties, feeding problems, deafness and heart failure. Trisomy 13 can be found during pregnancy with an amniocentesis. The prognosis is poor and most babies will not survive into adulthood. Read more at livingwithtrisomy13.org

Trisomy 18
Trisomy 18 occurs when a person receives a third chromosome 18, instead of two. Trisomy 18 is also known as Edwards syndrome. Trisomy 18 occurs in approximately 1 out of 3,000 live births and is more common among girls than boys. The condition causes abnormalities and often the child will die in the first few months of life. Unfortunately, over half of all babies that are diagnosed with trisomy 18 will die in their first week of life. Symptoms of the condition include a very large uterus during pregnancy, extra amniotic fluid, a low birth weight infant, mental deficiency, small jaws, clenched hands, hernia, heart disease, kidney abnormalities and ear defects. Trisomy 18 can be detected during pregnancy with an amniocentesis.

Trisomy 21
Trisomy 21 occurs when a person receives a third chromosome 21, instead of two. People that have trisomy 21 have 47 chromosomes. Trisomy 21 is also known as Downs syndrome. Downs syndrome is the most common cause of single birth defects and the severity can range from mild to severe. Trisomy 21 occurs in one out of every 800 live births.Common characteristics of Downs syndrome are decreased muscle tone, a flattened nose, small ears, a small mouth, separated sutures of the skull, slanted eyes, short limbs and large heads, Most people that suffer from this condition have moderate to severe mental retardation and delayed physical, social and mental development. The prognosis is getting better for this condition. Many people that suffer from Downs syndrome are living independently well into adulthood.

Trisomy X: Triple X syndrome
Triple X syndrome affects approximately 1 in 1,000 to 3,000 newborn girls. XXX syndrome (also called Triple X syndrome or Trisomy X) affects females who have three X chromosomes, instead of the usual two. It is the most common X-chromosome disorder in females. Triple X is a random mutation, usually inherited from the mother. Parents who have a daughter with Triple X usually do not have to worry about their later children having the syndrome. The mutation is often not diagnosed until later in life.

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