Chromosome 11, Partial Monosomy 11q

Important

It is possible that the main title of the report Chromosome 11, Partial Monosomy 11q 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.

Synonyms

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• Jacobsen Syndrome
• JBS
• Deletion 11q Syndrome, Partial
• Distal 11q- Syndrome
• Distal 11q Monosomy
• 11q- Syndrome, Partial
• Monosomy 11q, Partial
• Partial Monosomy of Long Arm of Chromosome 11

Disorder Subdivisions

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• None

General Discussion

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Chromosome 11, Partial Monosomy 11q is a rare chromosomal disorder in which a portion of the long arm (q) of chromosome 11 is missing (deleted or monosomic). The range and severity of symptoms may vary, depending upon the exact size and location of the deletion on 11q. Chromosome 11, Partial Monosomy 11q may be characterized by abnormally slow growth before and after birth (prenatal and postnatal growth retardation), mental retardation, and/or moderate to severe delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor retardation). Characteristic physical abnormalities may include malformations of the head and facial (craniofacial) area, abnormalities of the eyes, malformations of the hands and/or feet, and/or defects of the heart. The exact cause of Chromosome 11, Partial Monosomy 11q is not fully understood.

Resources

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Children's Craniofacial Association

13140 Coit Road

Suite 307

Dallas, TX 75240

USA

Tel: 2145709099

Fax: 2145708811

Tel: 8005353643

Email: csmith@ccakids.com

Internet: http://www.ccakids.com



FACES: The National Craniofacial Association

P.O. Box 11082

Chattanooga, TN 37401

Tel: (423)266-1632

Fax: (423)267-3124

Tel: (800)332-2373

Email: faces@faces-cranio.org

Internet: http://www.faces-cranio.org



Chromosome Deletion Outreach, Inc.

P.O. Box 724

Boca Raton, FL 33429-0724

USA

Tel: 5613954252

Fax: 5613954252

Email: info@chromodisorder.org

Internet: http://www.chromodisorder.org



American Speech-Language-Hearing Association

10801 Rockville Pike

Rockville, MD 20852

United States

Tel: 8003212742

Fax: 3015710457

Tel: 8003212742

TDD: 3018975700

Email: actioncenter@asha.org

Internet: http://www.asha.org



Congenital Heart Anomalies, Support, Education, & Resources

2112 North Wilkins Road

Swanton, OH 43558

Tel: (419)825-5575

Fax: (419)825-2880

Email: chaser@compuserve.com

Internet: http://www.csun.edu/~hcmth011/chaser/chaser-news.html



National Craniofacial Foundation

3100 Carlisle Street

Suite 215

Dallas, TX 75204

Tel: (800)535-3643



NIH/National Heart, Lung and Blood Institute Information Center

P.O. Box 30105

Bethesda, MD 20824-0105

Tel: (301)592-8573

Fax: (301)251-1223

Email: nhlbiinfo@rover.nhlbi.nih.gov



NIH/Nat'l Institute on Deafness & Other Communication Disorders Information Clearinghouse

1 Communication Ave

Bethesda, MD 20892-3456

Tel: (301)402-0900

Fax: (301)907-8830

Tel: (800)241-1044

TDD: (800)241-1105

Email: nidcdinfo@nidcd.nih.gov

Internet: http://www.nidcd.nih.gov



UNIQUE - Rare Chromosome Disorder Support Group

P.O. Box 2189

Caterham

Surrey, Intl CR3 5GN

United Kingdom

Tel: 44 0 1883 330766

Fax: 44 0 1883 330766

Email: info@rarechromo.org

Internet: http://www.rarechromo.org



Craniofacial Foundation of America

975 East Third Street

Chattanooga, TN 37403

Tel: (423)778-9192

Fax: (423)778-8172

Tel: (800)418-3223

Email: farmertm@erlanger.org

Internet: http://www.craniofacialcenter.com



11Q Research and Resource Group

83 Lantern Hill Road

Mystic, CT 06355

USA

Tel: 8605994015

Fax: 8604416159

Email: david_m_george@groton.pfizer.com

Internet: http://www.11qusa.org



European Chromosome 11q Network

Tom and Gabi Birle

Ahornstr. 13

Hebertshausen, Intl 85421

Germany

Tel: 31317423345

Fax: 31317426980

Email: info@11q.org

Internet: http://www.11q.org

For a Complete Report

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This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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 www.rarediseases.org or email orphan@rarediseases.org

Last Updated:   1/19/2001

Copyright   1989, 1996, 2001 National Organization for Rare Disorders, Inc.