Which arm of chromosome 17 is implicated in this syndrome?

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 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 happens if your missing chromosome 17?

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.

What happens when you are missing chromosome 17?

What does the 17th chromosome 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.

How common are chromosomal deletions of 17q?

Unbalanced gain of 17q correlates with other chromosomal deletions. The most frequent deletion site is the short arm of chromosome 1, followed by 11q. At least 30 translocation sites on 20 different chromosomes have been identified in various patient samples and cell lines ( Bown et al., 1999; Lastowska et al., 1997; Meddeb et al., 1996 ).

What is chromosome 17?

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. Identifying genes on each chromosome is an active area of genetic research.

What are the signs and symptoms of chromosome 17p duplication?

Features that often occur in people with chromosome 17p duplication include slowed growth both before and after birth; developmental delay; reduced muscle tone ( hypotonia ); congenital heart defects; and distinctive facial features.

Is chromosome 17q involved in neuroblastoma?

The chromosome 17q breakpoints are not confined to one cytogenetic band but are scattered throughout the long arm of chromosome 17 [81]. Based on these findings, the presence of one or more dosage-sensitive genes on 17q implicated in neuroblastoma seems the most plausible hypothesis.