What is Slitrk?

SLITRK1 (“SLIT and NTRK-like family, member 1”) is a human gene that codes for a transmembrane and signalling protein that is part of the SLITRK gene family, which is responsible for synapse regulation and presynaptic differentiation in the brain.

What does gene SLITRK1 do?

The SLITRK1 gene provides instructions for making a protein that is a member of the SLITRK family. Proteins in this family are found in the brain, where they play a role in the growth and development of nerve cells.

What happens if you are missing chromosome 13?

Chromosome 13, Partial Monosomy 13q is usually apparent at birth and may be characterized by low birth weight, malformations of the head and facial (craniofacial) area, abnormalities of the eyes, defects of the hands and/or feet, genital malformations in affected males, and/or additional physical abnormalities.

What disorder is chromosome 13?

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. Each cell normally contains 23 pairs of chromosomes, which carry the genes you inherit from your parents.

Do trisomy 13 babies suffer?

Patau’s syndrome (trisomy 13) is a rare condition, associated with high mortality, a range of congenital abnormalities, and severe physical and cognitive impairment. Many affected pregnancies will miscarry, and most babies born with the condition will not survive more than a few days or weeks.

What happens when chromosome 13 is missing?

Features that often occur in people with Chromosome 13q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited.

Does trisomy 13 run in families?

Trisomy 13 occurs in about 1 out of every 10,000 newborns. Most cases are not passed down through families (inherited). Instead, the events that lead to trisomy 13 occur in either the sperm or the egg that forms the fetus.

Can trisomy 13 be prevented?

Researchers don’t know how to prevent the chromosome errors that cause these disorders. There is no reason to believe a parent can do anything to cause or prevent trisomy 13 or 18 in their child. If you are younger than 35, the risk of having a baby with trisomy 13 or 18 goes up slightly each year as you get older.

Does trisomy 13 come from Mom or Dad?

The extra chromosome 18 or 13 can come from either the mother’s egg cell or the father’s sperm cell. In some instances, the extra chromosome 18 or 13 is attached to another chromosome in the egg or sperm. This is called translocation and is the only form of trisomy 18 or 13 that can be inherited.

Is there a cure coming soon for trisomy 13?

There is no cure for trisomy 13, and treatments focus on your baby’s symptoms.

Can trisomy 13 be seen on ultrasound?

Most babies with trisomy 13 will have abnormal ultrasound findings during pregnancy. These findings might be seen in the first trimester, but they are more commonly seen during a second trimester ultrasound. There are also genetic tests for trisomy 13 during pregnancy.