Chromosome 11, Partial Monosomy 11q
National Organization for Rare Disorders, Inc.
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.
- 11q- syndrome, partial
- 11q terminal deletion disorder
- distal 11q- syndrome
- Jacobsen syndrome
- monosomy 11q, partial
- partial monosomy of long arm of chromosome 11
- deletion 11q syndrome, partial
- distal 11q monosomy
Partial monosomy 11q, also known as Jacobsen syndrome, is a rare chromosomal disorder in which a portion of chromosome 11 is missing or deleted 11q monosomy. The range and severity of symptoms varies, depending in part on the exact location and size of the missing material. Symptoms commonly associated with partial monosomy 11q include abnormally slow growth before and after birth (prenatal and postnatal growth retardation), and/or moderate to severe delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor retardation). In rare cases, individuals may have normal/borderline intelligence while in most cases children have mild to severe intellectual disability. Characteristic physical abnormalities may include malformations of the head and face (craniofacial), abnormalities of the eyes, hands, feet, bleeding due to platelet abnormalities, and/or defects of the heart that are present at birth (congenital). The exact cause of partial monosomy 11q is not fully understood.
Children's Craniofacial Association
13140 Coit Road
Dallas, TX 75240
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Chromosome Disorder Outreach, Inc.
P.O. Box 724
Boca Raton, FL 33429-0724
American Speech-Language-Hearing Association
2200 Research Boulevard
Rockville, MD 20850-3289
NIH/National Heart, Lung and Blood Institute
P.O. Box 30105
Bethesda, MD 20892-0105
NIH/National Institute on Deafness and Other Communication Disorders
31 Center Drive, MSC 2320
Bethesda, MD 20892-3456
UNIQUE - Rare Chromosome Disorder Support Group
The Rare Chromosome Disorder Support Group
G1 The Stables
Station Road West, Oxted
Surrey, RH8 9EE
Email: firstname.lastname@example.org or email@example.com
Craniofacial Foundation of America
975 East Third Street
Chattanooga, TN 37403
11q Research and Resource Group
5155 Shotwell Street
Woodstock, GA 30188
European Chromosome 11q Network
Sparkasse Pforzheim D
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
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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.
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Last Updated: 4/26/2012
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