Chromosome 11, Partial Monosomy 11q
You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.
NORD is very grateful to Teresa Mattina, MD, and Concetta Simona Perrotta, MD, Genetica Medica, Department of Pediatrics, University of Catania, 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
- monosomy 11q, partial
- partial monosomy of long arm of chromosome 11
- No subdivisions found.
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.
Organizations related to Chromosome 11, Partial Monosomy 11q
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., craniofacial abnormalities, heart defects, blood abnormalities, mental retardation, speech impairment.].)
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
Copyright 1989, 1996, 2001, 2009, 2012
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.