National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Chromosome 3q duplication


Other Names:
Trisomy 3q; Duplication 3q; Chromosome 3, trisomy 3q
Categories:
Subtypes:
Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that may be present in a person with a chromosome 3q duplication include distinctive facial features, hirsutism (excessive hair growth in women), small head size (microcephaly), intellectual disability, slowed growth, and abnormalities of the hands, feet, genitourinary system, kidneys, and/or heart. Various other neurologic abnormalities or birth defects affecting other parts of the body may also occur. About one third of babies with chromosome 3q duplication do not survive past the first year of life, often due to heart defects or infections.[1]

Chromosome 3q duplication can be de novo (not inherited and occurring for the first time), or inherited from a parent with a chromosomal rearrangement such as a balanced translocation.[2] In most cases, it occurs as part of an unbalanced translocation, which means that abnormalities of other chromosomes are also present.[1] Treatment is based on the signs and symptoms present in each person.
Last updated: 7/23/2018

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Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Chromosome 3q duplication. This website is maintained by the National Library of Medicine.
  • Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about duplications of 3q.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 3q duplication. Click on the link to view a sample search on this topic.

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  1. Dworschak GC, Crétolle C, Hilger A, Engels H, Korsch E, Reutter H, Ludwig M. Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2. Clin Genet. May, 2017; 91(5):661-671. https://www.ncbi.nlm.nih.gov/pubmed/27549440.
  2. Duplications of 3q. Unique. 2008; http://www.rarechromo.org/information/Chromosome%20%203/3q%20duplications%20FTNW.pdf.