What is 17q12 microdeletion syndrome?

What is 17q12 microdeletion syndrome?

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 does an extra chromosome 17 mean?

Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication ) of a small piece of chromosome 17 in each cell. The duplication occurs on the short (p) arm of the chromosome at a position designated p11. 2. This condition is also known as 17p11. 2 duplication syndrome.

What is the genetic disorders found on chromosome 17?

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).

How are microdeletions detected?

The implementation of qPCR for genomic copy number profiling will provide a valuable tool for detection of atypical microdeletions and/or microduplications in individuals who go undiagnosed by the current available FISH methods. Such data will be useful for phenotype correlation studies.

Why do Microdeletions occur?

Microdeletion syndromes. Microdeletion syndromes involve chromosomal deletions that include several genes, but are too small to be detected by karyotype. They are usually de novo, and tend to recur in the same regions due to homologous recombination of flanking low-copy repeat gene clusters.

Why do microdeletions occur?

Are microdeletions inherited?

1 microdeletion is inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 1 in each cell is sufficient to increase the risk of delayed development, intellectual disability, and other signs and symptoms.

How common is 17q12 deletion syndrome?

The worldwide prevalence of 17q12 deletion syndrome is unknown, although the condition appears to be rare. One study estimated that 17q12 deletion syndrome occurs in 1 in 14,500 people in Iceland.

What type of chromosomal disorders have the greatest effect on a person’s health?

Which type of chromosomal disorders seems to have the greatest affect on a person’s health—disorders involving autosomes or sex chromosomes? Disorders involving autosomes have the greatest effect on health.

What happens if you are missing chromosome 6?

Features that often occur in people with chromosome 6p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Chromosome 6p deletion can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation.