Chromosome 4, Partial Trisomy Distal 4q

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Chromosome 4, Partial Trisomy Distal 4q is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Chromosome 4, Partial Trisomy Distal 4q is a rare chromosomal disorder in which a portion of the fourth chromosome appears three times (trisomy) rather than twice in cells of the body. Associated symptoms and findings may vary from case to case. However, common features include growth deficiency; mental retardation; distinctive malformations of the skull and facial (craniofacial) region, including an unusually small head (microcephaly), malformed ears, and a prominent nasal bridge; and/or defects of the hands and feet. In some cases, additional physical abnormalities may also be present, such as structural defects of the heart that are present at birth (congenital heart defects); genital abnormalities in affected males; urinary tract defects; and/or other findings. In most cases, the trisomy appears to result from a balanced chromosomal rearrangement in one of the parents; rarely, it is thought to arise from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically).

Supporting Organizations


PO Box 751112
Las Vegas, NV 89136
Tel: (702)769-9264
Fax: (702)341-5351
Tel: (888)486-1209

American Heart Association

7272 Greenville Avenue
Dallas, TX 75231
Tel: (214)784-7212
Fax: (214)784-1307
Tel: (800)242-8721

Children's Craniofacial Association

13140 Coit Road
Suite 517
Dallas, TX 75240
Tel: (214)570-9099
Fax: (214)570-8811
Tel: (800)535-3643

Craniofacial Foundation of America

975 East Third Street
Chattanooga, TN 37403
Tel: (423)778-9176
Fax: (423)778-8172
Tel: (800)418-3223

FACES: The National Craniofacial Association

PO Box 11082
Chattanooga, TN 37401
Tel: (423)266-1632
Fax: (423)267-3124
Tel: (800)332-2373

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

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: or
Website: and


333 East 30th Street, Lobby Unit
New York, NY 10016
Tel: (212)263-6656
Fax: (212)263-7534

NIH/National Kidney and Urologic Diseases Information Clearinghouse

3 Information Way
Bethesda, MD 20892-3580
Fax: (703)738-4929
Tel: (800)891-5390

Support Organization for Trisomy 18, 13, and Related Disorders

2982 S. Union Street
Rochester, NY 14624-1926
Fax: (585)594-1957
Tel: (800)716-7638

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255

UNIQUE - Rare Chromosome Disorder Support Group

G1 The Stables
Station Road West
Oxted, RH8 9EE
United Kingdom
Tel: 0044 (0)1883 723356

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.

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.

Last Updated:  4/10/2009
Copyright  2009 National Organization for Rare Disorders, Inc.