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Learn About Chromosome 13q Deletion

What is the definition of Chromosome 13q Deletion?
Chromosome 13q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 13. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. 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. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion.
What are the alternative names for Chromosome 13q Deletion?
  • Chromosome 13q deletion
  • 13q deletion
  • 13q monosomy
  • Deletion 13q
  • Monosomy 13q
Who are the top Chromosome 13q Deletion Local Doctors?
Advanced in Chromosome 13q Deletion
Medical Genetics | Pediatrics
Advanced in Chromosome 13q Deletion
Medical Genetics | Pediatrics

University Of Penn - Medical Group

3400 Civic Ctr Blvd 2, Medical Genetics Icm Program, 
Philadelphia, PA 
 (72.4 mi)
Languages Spoken:
English
Offers Telehealth

Staci Kallish is a Medical Genetics specialist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Kallish and is rated as an Advanced provider by MediFind in the treatment of Chromosome 13q Deletion. Her top areas of expertise are Gaucher Disease Type 1, Neurofibromatosis Type 1 (NF1), Neurofibromatosis, and Fabry Disease.

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