What is chromosome 9p deletion?
Chromosome 9p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 9. The severity and the signs and symptoms depend on the size and location of the deletion and which genes are involved.
What causes 9p deletion?
A 9p deletion is a rare genetic condition caused by having a chromosome 9 with a piece missing.
What is the 9th chromosome responsible for?
Chromosome 9 likely contains 800 to 900 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body.
Is there a cure for Alfi’s Syndrome?
The diagnosis was Chromosome Deletion 9P Minus Syndrome, or Alfi’s Syndrome. There’s no known cause and no known treatment.
What population is affected by monosomy 9p?
Chromosome 9p deletion syndrome occurs 1 in 50,000 births. Half of the cases occur sporadically, while the other half of cases result from parent translocations or the parent having deletion as well.
What is monosomy 9p?
Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single …
What are chromosome 9 characteristics?
Research shows that several genes that control cell growth and division are located on chromosome 9. Many of these genes are tumor suppressors, which means they normally help prevent cells from growing and dividing in an uncontrolled way.
Is Edwards Syndrome genetic?
Edwards syndrome is a genetic condition in babies that causes severe disability. It is caused by an extra copy of chromosome 18 and babies born with the condition usually do not survive for much longer than a week.
Is Patau syndrome genetic?
Patau’s syndrome is a serious rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body’s cells. It’s also called trisomy 13.