What is 9q deletion?

What is 9q deletion?

A 9q interstitial deletion including 9q33 is a rare genetic condition caused by a missing part of one of the body’s 46 chromosomes – chromosome 9. An interstitial deletion means that the chromosome has broken in two places and the broken ends have fused, leaving out the deleted segment.

What is chromosome 9p deletion syndrome?

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 is chromosome 9q?

Individuals with a normal chromosomal make-up (karyotype) have two 9th chromosomes, both of which have a short arm (“9p”) and a long arm (“9q”). However, in individuals with Chromosome 9, Tetrasomy 9p, four short arms (9ps) are present in cells rather than the normal two.

What is the 11q deletion syndrome?

Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen syndrome vary considerably.

What causes chromosome 11 deletion?

The exact cause of chromosome 11 ring is not fully understood. Interstitial deletion 11q is a partial monosomy (deletion) 11q due to the occurrence of two breaks within the long arm of chromosome 11, and loss of the fragment in between them.

What is the 11th chromosome responsible for?

Chromosome 11 is one of the 23 pairs of chromosomes in humans. Humans normally have two copies of this chromosome. Chromosome 11 spans about 135 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells….

What is a 9q33 deletion?

q33.2 Chromosome 9 9q33 and surrounding chromosomal regions than may be included in a deletion from the tip of the chromosome (top of the p 19 the same deletion as the child or a chromosomal rearrangement that involves the long arm of chromosome 9.

Why do 9Q deletions appear differently in different individuals?

When researchers compare the features in different individuals with the deletion, genes can be identified that contribute to the different features of 9q deletions.

How common are seizures in children with deletion 9q33?

At Unique, only one/12 children with a deletion only involving 9q33 has had proven seizures but at least 5/8 children with a deletion involving 9q34 have had proven epilepsy. The girl with a 9q33 deletion had absences around 11 which developed into a full seizure.

What are the symptoms of interstitial deletion 9q33?

Motor development can also be delayed in children with a 9q interstitial deletion including 9q33. For instance, children can be slower in learning to roll over, sit or walk. Some children do not learn to walk.