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Chromosome 4, Monosomy 4q

National Organization for Rare Disorders, Inc.


It is possible that the main title of the report Chromosome 4, Monosomy 4q is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • Chromosome 4 Long Arm Deletion
  • Chromosome 4q- Syndrome

Disorder Subdivisions

  • Interstitial Deletion of 4q, Included
  • Terminal Deletion of 4q, Included
  • Proximal Deletion of 4q, Included

General Discussion

Chromosome 4, Monosomy 4q is a chromosomal disorder caused by a partial deletion of the long arm of chromosome 4. The patient may have an extremely prominent forehead (frontal bossing), enlargement of the back part of the head, low placement of ears, short broad hands and feet, unusually small size associated with slow or delayed growth, congenital heart defects, and possible mental retardation.


Chromosome Disorder Outreach, Inc.

P.O. Box 724

Boca Raton, FL 33429-0724


Tel: (561)395-4252

Fax: (561)395-4252



UNIQUE - Rare Chromosome Disorder Support Group

P.O. Box 2189


Surrey, CR3 5GN

United Kingdom

Tel: 4401883330766

Fax: 4401883330766



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223


For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site or email

Last Updated:  8/7/2007

Copyright  1991, 1999, 2007 National Organization for Rare Disorders, Inc.

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