What is the function of chromosome 17?
The RARA gene on chromosome 17 provides instructions for making a transcription factor called the retinoic acid receptor alpha (RARα). A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity (transcription) of particular genes.
What is the chromosome 17 mutation?
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. The signs and symptoms of 17q12 deletion syndrome vary widely, even among affected members of the same family.
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 chromosome is affected by ADHD?
A mutation in the TPH2 gene (607478) on chromosome 12q21 is associated with susceptibility to ADHD (ADHD7; 613003).
What chromosome does schizophrenia affect?
Deletions or duplications of genetic material in any of several chromosomes, which can affect multiple genes, are also thought to increase schizophrenia risk. In particular, a small deletion (microdeletion) in a region of chromosome 22 called 22q11 may be involved in a small percentage of cases of schizophrenia.
What is the rarest chromosome disorder?
Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal disorder caused by a missing piece (partial deletion or monosomy) of the short arm of chromosome 4.
Is ADHD inherited from father?
Genetics. ADHD tends to run in families and, in most cases, it’s thought the genes you inherit from your parents are a significant factor in developing the condition. Research shows that parents and siblings of a child with ADHD are more likely to have ADHD themselves.
What genes are associated with autism?
Results. Some of the candidate genes of idiopathic autism (90-95% of all cases) related to brain metabolism are AVPR1a, DISC1, DYX1C1, ITGB3, SLC6A4, RELN, RPL10 and SHANK3.
What does chromosome 17 mean?
Chromosome 17. Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 17, one copy inherited from each parent, form one of the pairs. Chromosome 17 spans about 83 million DNA building blocks (base pairs) and represents between 2.5 and 3 percent of the total DNA in cells.
What does chromosome 17 control?
The RARA gene on chromosome 17 provides instructions for making a transcription factor called the retinoic acid receptor alpha (RARα). A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity (transcription) of particular genes.
What is the 17th human chromosome?
in human male karyogram. Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 83 million base pairs (the building material of DNA) and represents between 2.5 and 3% of the total DNA in cells .
What does the deletion of chromosome 17 mean?
Deletion of a small amount of genetic material (a microdeletion) on chromosome 17 can cause Koolen-de Vries syndrome. This disorder is characterized by developmental delay, intellectual disability, a cheerful and sociable disposition, and a variety of physical abnormalities.