What does a deletion in chromosome 9 mean?

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 happens if a chromosome is defective?

For example, an extra copy of chromosome 21 causes Down syndrome (trisomy 21). Chromosomal abnormalities can also cause miscarriage, disease, or problems in growth or development. The most common type of chromosomal abnormality is known as aneuploidy, an abnormal chromosome number due to an extra or missing chromosome.

What is the effect of an inversion of chromosome 9 in humans?

The inversion of chromosome 9 used to be considered a normal variant with no clinical phenotypic effect. However, some studies using classical cytogenetics have recently shown that inv9 could be associated with infertility,4,5 recurrent miscarriages,6 and idiopathic reproductive failure.

What causes Walker Warburg Syndrome?

Causes. Walker-Warburg syndrome can be caused by mutations in at least a dozen genes. The most commonly mutated genes were discovered first, including POMT1, POMT2, CRPPA, FKTN, FKRP, and LARGE1. Mutations in these genes are found in about half of individuals with Walker-Warburg syndrome.

Is trisomy 9 a genetic disorder?

Trisomy 9p is a rare chromosomal syndrome in which a portion of the 9th chromosome appears three times (trisomy) rather than twice in cells of the body. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual.

How common is trisomy 9?

The earliest report of trisomy 9 mosaicism was in 1973. Trisomy 9 is extremely rare in live births. Only 0.1% of trisomy 9 conceptions will result in live birth with poor prognosis, with survival times ranging from mere minutes to 9 months after birth. Live-born fetuses will have a mosaic phenotype.

What causes chromosome deletion?

Deletions can be caused by errors in chromosomal crossover during meiosis, which causes several serious genetic diseases. Deletions that do not occur in multiples of three bases can cause a frameshift by changing the 3-nucleotide protein reading frame of the genetic sequence.