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Chromosome 11, Partial Monosomy 11q
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"Resources" on this report.
Copyright 1989, 1996, 2001, 2009
NORD is very grateful to Concetta Simona Perrotta, MD, and Teresa Mattina, MD, Medical Genetics, Department of Pediatrics, University of Catania, Italy, for assistance in the preparation of this report.
Synonyms of Chromosome 11, Partial Monosomy 11q
- 11q- syndrome, partial
- 11q terminal deletion disorder
- deletion 11q syndrome, partial
- distal 11q monosomy
- distal 11q- syndrome
- Jacobsen syndrome
- JBS
- monosomy 11q, partial
- partial monosomy of long arm of chromosome 11
Disorder Subdivisions
General Discussion
Partial monosomy 11q, also known as Jacobsen syndrome, is a rare chromosomal disorder in which a portion of chromosome 11 is missing or deleted11q monosomy. The range and severity of symptoms varies, depending 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 mental retardation. 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.
Organizations related to Chromosome 11, Partial Monosomy 11q
- 11q Research and Resource Group
1641 Hunter Road
Waukesha WI 53189
Phone #: 678-267-3586
800 #: --
e-mail: 11qusa@gmail.com
Home page: http://www.11qusa.org
- American Speech-Language-Hearing Association
10801 Rockville Pike
Rockville MD 20852
Phone #: 800-321-2742
800 #: 800-321-2742
e-mail: actioncenter@asha.org
Home page: http://www.asha.org
- Children's Craniofacial Association
13140 Coit Road
Suite 517
Dallas TX 75240
Phone #: 214-570-9099
800 #: 800-535-3643
e-mail: contactCCA@ccakids.com
Home page: http://www.ccakids.com
- Chromosome Disorder Outreach, Inc.
P.O. Box 724
Boca Raton FL 33429-0724
Phone #: 561-395-4252
800 #: N/A
e-mail: info@chromodisorder.org
Home page: http://www.chromodisorder.org
- Congenital Heart Anomalies, Support, Education, & Resources, Inc. (CHASER, Inc.)
2112 North Wilkins Road
Swanton OH 43558
Phone #: 419-825-5575
800 #: --
e-mail: myer106w@wonder.em.cdc.gov
Home page: http://www.csun.edu/~hcmth011/chaser/chaser-news.html
- Craniofacial Foundation of America
975 East Third Street
Chattanooga TN 37403
Phone #: 423-778-9176
800 #: 800-418-3223
e-mail: info@craniofacialfoundation.org
Home page: http://www.craniofacialfoundation.org/www
- European Chromosome 11q Network
Sparkasse Pforzheim D
Wiernsheim Intl 85421
Phone #: 313-174-23345
800 #: --
e-mail: sandra.disteli@chromosome11.eu
Home page: http://www.chromosome11.eu/
- FACES: The National Craniofacial Association
P. O. Box 11082
Chattanooga TN 37401
Phone #: 423-266-1632
800 #: 800-332-2373
e-mail: faces@faces-cranio.org
Home page: http://www.faces-cranio.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/Nat'l Institute on Deafness & Other Communication Disorders Information Clearinghouse
1 Communication Ave
Bethesda MD 20892-3456
Phone #: 301-402-0900
800 #: 800-241-1044
e-mail: nidcdinfo@nidcd.nih.gov
Home page: http://www.nidcd.nih.gov
- NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda MD 20824-0105
Phone #: 301-592-8573
800 #: --
e-mail: nhlbiinfo@rover.nhlbi.nih.gov
Home page: N/A
- UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Caterham
Surrey Intl CR3 5GN
Phone #: 44 -0 1-883 330766
800 #: --
e-mail: info@rarechromo.org
Home page: http://www.rarechromo.org
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