Learn About Chromosome 9p Deletion

What is the definition of Chromosome 9p Deletion?
Chromosome 9p deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 9. The severity and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features may affect many parts of the body and may include developmental delay, low muscle tone (hypotonia), distinctive facial features, heart conditions, scoliosis, and/or genital abnormalities. Chromosome testing of both parents can provide more information on whether the deletion was inherited. In about half of cases, the deletion occurs sporadically and neither parent has a chromosome abnormality. In the other half, one parent is found to have the same deletion (possibly with no features) or a balanced translocation (which usually does not cause any features).
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What are the alternative names for Chromosome 9p Deletion?
  • Chromosome 9p deletion
  • 9p deletion
  • 9p monosomy
  • Deletion 9p
  • Monosomy 9p
  • Partial monosomy 9p
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What are the latest Chromosome 9p Deletion Clinical Trials?
Genotype-Phenotype Correlation in Patients With Chromosome 9 P Minus Syndrome

Summary: Patients with deletion of chromosome 9 P are rare ( 200 in the medical literature) and have a diverse set of phenotypic characteristics. We propose using state of the art genome sequencing methods to define the location and size of the deleted portion of chromosome 9 P as well as the genetic background in affected patients (whole genome sequencing) and correlate the genes in the deleted portion of...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Chromosome 9p Deletion?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.