What is chromosome 17 called?

What is the name of chromosome 17?

Chromosome 17 contains the Homeobox B gene cluster.

Chromosome 17
No. of genes 1,124 (CCDS)
Type Autosome
Centromere position Submetacentric (25.1 Mbp)
Complete gene lists

What is the 17th chromosome responsible for?

Human chromosome 17 is implicated in a wide range of human genetic diseases. It is home to genes involved in early-onset breast cancer (BRCA1), neurofibromatosis (NF1) and the DNA damage response (TP53 encoding the p53 protein).

What does 17q12 mean?

Collapse Section. 17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q12.

How rare is Potocki Lupski syndrome?

Potocki-Lupski syndrome affects an estimated 1 in 25,000 people worldwide. More than 50 affected individuals have been described in the medical literature.

What is microdeletion syndrome?

1 microdeletion syndrome is a rare chromosome disorder. Symptoms may include seizures, moderate to severe learning problems, speech delays, behavior problems, trouble sleeping, and developmental delays (learn to crawl, sit or walk later than other babies). Children affected by 2q23.

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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.

What is the cause of Alexander disease?

Cause. Alexander disease is a genetic disorder affecting the midbrain and cerebellum of the central nervous system. It is caused by mutations in the gene for glial fibrillary acidic protein (GFAP) that maps to chromosome 17q21.

What chromosome is NF1 on?

The NF1 gene is located on chromosome 17. This gene produces a protein called neurofibromin that helps regulate cell growth. The mutated gene causes a loss of neurofibromin, which allows cells to grow uncontrolled. NF2 .

What is a chromosomal mutation?

Chromosome structure mutations are alterations that affect whole chromosomes and whole genes rather than just individual nucleotides. These mutations result from errors in cell division that cause a section of a chromosome to break off, be duplicated or move onto another chromosome.

What does Cri du Chat mean?

Description. Collapse Section. Cri-du-chat (cat’s cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing . Infants with this condition often have a high-pitched cry that sounds like that of a cat.

What is 17q12 Microduplication?

17q12 duplication is a chromosomal change in which a small piece of chromosome 17 is copied (duplicated ) abnormally in each cell. The duplication occurs on the long (q) arm of the chromosome at a position designated q12.

Can anyone get DiGeorge?

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.

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What happens if you have an extra chromosome 17?

The symptoms reported include: developmental delays, body asymmetry, slow growth, and cerebellar hypoplasia. Again, signs and symptoms may vary in these individuals depending on which cells and how many cells contain an extra chromosome 17.

What are the characteristics of Williams syndrome?

Newborns with Williams syndrome have characteristic “elfin-like” facial features including an unusually small head (microcephaly), full cheeks, an abnormally broad forehead, puffiness around the eyes and lips, a depressed nasal bridge, broad nose, and/or an unusually wide and prominent open mouth.

What is Potocki Shaffer syndrome?

Potocki-Shaffer syndrome is a disorder that affects development of the bones, nerve cells in the brain, and other tissues. Most people with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. In rare instances, these tumors become cancerous.