8p Genetics - Project8p (2024)

Chromosome 8p is a rare genetic condition with approximately 550 patients around the world and counting. A chromosome disorder typically impacts every cell in your body, not just in one organ of your body, but often your entire human system. Right now, science does not have the means to treat this condition. The good news is that the scientific community is making substantial progress and together with Project 8p, we are going to do everything we can to help.

In most cases, Chromosome 8, appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons and are not inherited. Recently, we have found families where the mutation has also been inherited but different manifestations of the symptoms.

• Monosomy – A person has only one copy of a chromosome. In a partial monosomy, only part of one chromosome is missing.
• Trisomy – A person has three copies of a chromosome. Partial trisomy means a person has an extra copy of part of a chromosome.
• Deletions– A section of a chromosome is missing. This can be referred to as a deletion, partial deletion, partial monosomy, distal monosomy or terminal deletion.
• Duplications – Part of the chromosome is duplicated so a person has extra genetic material.
• Translocations – A section of one chromosome is transferred to a different chromosome.
• Rings – A portion of a chromosome has broken and formed into a ring shape. This can happen with or without loss of genetic material.
• Mosaicism – Mosaicism occurs when a person has two or more cell populations with a different chromosomal makeup. When abnormalities occur after fertilization, mosaicism can occur because some cells have the abnormality and some do not.
• Isochromosome – This occurs with improper division of the centromere. Isochromosomes contain either two short arms or two long arms, instead one short arm and one long arm, like a typical chromosome.
• Inversion – Part of a chromosome has broken off, turned upside down and reattached itself. Inversions can be paracentric or pericentric. Paracentric inversions occur on only one arm of the chromosome and do not include the centromere. Pericentric inversions include the centromere and include both arms of the chromosome.

There are many ways a chromosome 8p rearrangement can get diagnosed. The most common is a Microarray, Chromosome Analysis Test, Whole Exome Sequencing, or Whole Genome Sequencing. FISH tests can also pick up Chromosome changes.These tests can all be performed from a blood sample.