What is Alfi syndrome?

What is Alfi syndrome?

Monosomy 9p (also known as Alfi’s Syndrome or simply 9P-) is a rare chromosomal disorder in which some DNA is missing or has been deleted on the short arm region, “p”, of one of the 9th Chromosomes (9p22. 2-p23). This deletion either happens de novo or a result of a parent having the chromosome abnormality.

What gene or chromosome is affected by Alfi’s Syndrome?

Alfi’s Syndrome is also called Chromosome 9p deletion, because some of the genetic material on the short arm of chromosome 9 is not there, causing medical problems from head to toe.

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.

Is DiGeorge syndrome genetic?

DiGeorge syndrome is caused by a problem with a person’s genes, called 22q11 deletion. It is not usually passed on to a child by their parents, but it is in a few cases. It’s often diagnosed soon after birth with a blood test to check for the genetic fault.

What is Alfi’s syndrome (Monosomy 9p)?

Monosomy 9p (also known as Alfi’s Syndrome or simply 9P-) is a rare chromosomal disorder in which there is deletion ( monosomy) of a portion of chromosome 9. Symptoms include microgenitalia, intellectual disability with microcephaly and dysmorphic features.

What are the features of ALFI’s syndrome?

As with other chromosomal abnormalities, the features of children with Alfi’s syndrome include mental retardation, craniofacial deformities and congenital heart defects. Individuals with the disorder may appear to have a number of abnormal body features, including: midfacial hypoplasia, where the middle of the face seems abnormally flat

What is 18q- syndrome and what causes it?

Chromosome 18q- syndrome is a chromosomal disorder in which there is deletion (monosomy) of part of the long arm (q) of chromosome 18. Chromosomes are found in the nucleus of all body cells.

Is there a cure for Alfi syndrome?

Treatment and support for Alfi’s syndrome. A cure is not available, but the symptoms of the chromosome loss can be treated. If you or a loved one suffer from this condition and are interested in participating in clinical trials or medical research of the disorder, you can search ClinicalConnections for opportunities.