Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Chromosome 1q41-q42 deletion syndrome


Other Names for this Disease
  • 1q41-q42 deletion syndrome
  • 1q41-q42 microdeletion syndrome
  • Deletion 1q41-q42
  • Monosomy 1q41-q42
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Chromosome 1q41-q42 deletion syndrome is characterized by a small, but variable deletion in a particular place on the long arm of one copy of chromosome 1, usually spanning several genes. There have been variable features described in the literature, and individuals have ranged from being mildly to severely affected.[1][2] Features may include poor feeding in infancy; developmental delay including delayed or absent speech; and moderate to severe intellectual disability. Other features may include hypotonia; short stature; seizures; heart defects; structural brain anomalies (most commonly underdevelopment of the corpus callosum); genitourinary abnormalities; cleft palate; microcephaly; vision problems; hearing loss; and other abnormalities. Some may have characteristic facial features.[3][1][2] Researchers have suggested the features are caused by disruption of at least four genes.[1][4] To date, all reported cases have represented isolated cases, occurring in families with no history of the condition.[5]
Last updated: 5/26/2016

References

  1. Filges I, Röthlisberger B, Boesch N, Weber P, Wenzel F, Huber AR, Heinimann K, Miny P. Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome. American Journal of Medical Genetics. April 2010; 152A(4):987-993. http://www.ncbi.nlm.nih.gov/pubmed/20358614.
  2. 1q4 deletions: from 1q42 and beyond. Unique. 2013; http://www.rarechromo.org/information/Chromosome%20%201/1q4%20deletions%20FTNW.pdf.
  3. Johnson VP, Heck LJ, Carter GA, Flom JO. Deletion of the distal long arm of chromosome 1: a definable syndrome. American Journal of Medical Genetics. December 1985; 22(4):685-94. http://www.ncbi.nlm.nih.gov/pubmed/4073121.
  4. Au PY, Argiropoulos B, Parboosingh JS, Micheil Innes A.. Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.. Am J Med Genet A. 2014 Feb; 164A(2):441-8. https://www.ncbi.nlm.nih.gov/pubmed/24357076.
  5. CHROMOSOME 1q41-q42 DELETION SYNDROME. OMIM. June 21, 2011; http://www.omim.org/entry/612530.
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Your Questions Answered
Your Questions Answered
View questions about this condition answered by GARD Information Specialists. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on chromosome 1. Click on the link to go to GHR and review the information.
  • 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 1q4 deletions.

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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 1q41-q42 deletion syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • 1q41-q42 deletion syndrome
  • 1q41-q42 microdeletion syndrome
  • Deletion 1q41-q42
  • Monosomy 1q41-q42
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.