What does 17q12 mean?

What does 17q12 mean?

A chromosome 17q12 microdeletion means that a part of one of the body’s chromosomes has been lost or deleted. If the missing chromosome material contains genes with important instructions for the brain or body, developmental delay, some learning and behaviour difficulties, and health problems may occur.

How common is 17q12 deletion syndrome?

17q12 microdeletions are estimated to occur in approximately 1 in 600 people on the autism spectrum and 1 in 1,600 with schizophrenia, but are far rarer in the general population. General prevalence is estimated to be between 1 in 14,000 and 1 in 62,500.

How many microdeletions are there?

Theoretically, for every microdeletion syndrome there should be a reciprocal microduplication syndrome. However, there are at present 211 microdeletion syndromes versus only 79 microduplication syndromes reported (Table 1, Suppl.

What is 17q12 microdeletion?

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly …

What are chromosome 17 traits?

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 are chromosome 3 characteristics?

Chromosome 3 likely contains 1,000 to 1,100 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body.