Chromosome 17p13.1 deletion syndrome is also known as 17p13.1 microdeletion syndrome. This is a genetic condition where a section of the 17th chromosome is missing. Individuals with this condition may have any of the following symptoms: speech and language delays, motor development delay, eye problems, slim stature, low muscle tone, and feeding problems. These children also tend to have learning disabilities that require additional supportive resources. Affected children may also have heart problems, seizures, and/or behavioral problems. Also these children may have specific facial features such as: a webbed neck, prominent forehead, arched eyebrows, thin lips and downturned corners of the mouth, a small chin, and a high arched roof of their mouth.
This type of genetic condition, a chromosomal deletion, is usually not passed from parent to child and occurs by random chance. But when it does occur, only one chromosome needs to be affected in order for symptoms to occur, this is known as an autosomal dominant condition.
Diagnosis is confirmed through a genetic test called a chromosomal microarray, which looks for small missing or added sections of chromosomes. There is no cure for this condition and treatments are used to manage symptoms. If your child has been diagnosed with chromosome 17p13.1 deletion syndrome, talk to you doctor about current treatment options.
Description Last Updated: Feb 08, 2018