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Sometimes these abnormal genes or chromosomes are passed down from a parent, and sometimes they occur spontaneously without reason.
For help in understanding the terms used in genetics, see the talking glossary of genetic terms National Human Genome Research Institute. Here, you can listen to detailed explanations of these complicated terms.
What are genetic syndromes?
A syndrome is a disease or disorder that has more than one identifying feature or symptom. Each particular genetic syndrome will have many typical features, depending on which aspects of development are affected by the abnormal genes or chromosomes.
A child might be born with obvious body deformities, abnormal organ function (for example: heart, brain, gut, or kidney), or neurological problems (for example, when a baby’s body is floppy or the baby is unable to nurse or bottle feed). However, many of the genetic syndromes start to take effect only once the baby has been born and is starting to feed and grow. These babies may look and act entirely normal at birth, but then develop problems later on in life.
This is a big and complex topic, and we are learning more and more about genetic syndromes every day.
Some Syndromes
Angelman Syndrome
Down Syndrome
Fagile X Syndrome
Neurofibromatosis
Cri du Chat Syndrome
Prader-Willi Syndrome
Rett Syndrome
Smith Magenis Syndrome
Turner Syndrome
Velocardiofacial Syndrome
Williams Syndrome
XXX Syndrome (Triple X)
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