How do you describe chromosomal deletion?
Deletion. Deletion is a type of mutation involving the loss of genetic material. It can be small, involving a single missing DNA base pair, or large, involving a piece of a chromosome.
What causes Alfi’s syndrome?
Alfi’s Syndrome is caused by a spontaneous mutation when cells are dividing in utero. It is very difficult to make a diagnosis before the child is born. Tune in for Tuesday night’s Healthcast on Duchenne Muscular Dystrophy, a fatal disease that causes young men to become prisoners in their own bodies.
What is 9p deletion syndrome?
9p deletion syndrome. Specialty. Medical genetics. 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).
Is Alfi’s syndrome inherited?
In most patients the syndrome is the result of a sporadic chromosomal mutation, but in ~15% of families it is caused by balanced abnormalities (usually translocations) in one of the parents.
What is Wolf-Hirschhorn Syndrome?
Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures.
What is missing a chromosome?
Numerical Abnormalities: When an individual is missing one of the chromosomes from a pair, the condition is called monosomy. When an individual has more than two chromosomes instead of a pair, the condition is called trisomy. An example of a condition caused by numerical abnormalities is Down syndrome,…
What is a missing chromosome?
There are two common types of aneuploidy: monosomy (MOHN-oh-soh-mee) and trisomy (TRY-soh-mee). People with monosomy are missing a chromosome. So, for a particular chromosome, only one is present instead of two. People with trisomy have an extra copy of one of their chromosomes.
What is 26 chromosome?
X chromosome, trisomy 26-28. X chromosome trisomy 26-28 is a rare genetic condition. This condition results from a mutation or error in a person’s DNA or genes. This can cause birth defects such as seizures, webbed neck or short stature, as well as developmental delays and behavioral problems.