Chromosome 9, Partial Monosomy 9p
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 Shashikant Kulkarni, PhD, Director of CytoGenomics and Molecular Pathology, Director of Clinical & Molecular Cytogenetics, Department of Pathology, Washington University School of Medicine, for assistance in the preparation of this report.
Synonyms of Chromosome 9, Partial Monosomy 9p
- 9p Partial Monosomy
- 9p- Syndrome, Partial
- Chromosome 9, Partial Monosomy 9p22
- Chromosome 9, Partial Monosomy 9p22-pter
- Del(9p) Syndrome, Partial
- Deletion 9p Syndrome, Partial
- Distal 9p- Syndrome
- Distal Monosomy 9p
- Monosomy 9p, Partial
- Partial Deletion of Short Arm of Chromosome 9
- No subdivisions found.
Chromosome 9, Partial Monosomy 9p is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 9th chromosome. Characteristic symptoms and findings include mental retardation; distinctive malformations of the skull and facial (craniofacial) region, such as an abnormally shaped forehead (i.e., trigonocephaly), upwardly slanting eyelid folds (palpebral fissures), and unusually flat midfacial regions (midfacial hypoplasia); structural malformations of the heart (congenital heart defects); genital defects in affected males and females; and/or additional physical abnormalities. In most cases, Chromosome 9, Partial Monosomy 9p appears to result from spontaneous (de novo) errors very early in embryonic development that occur for unknown reasons (sporadically).
Chromosome 9, Partial Monosomy 9p Resources
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., mental retardation, congenital heart defects, craniofacial abnormalities, etc.].)
NORD Member Organizations:
(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at firstname.lastname@example.org.)
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 1995, 2001, 2003, 2009
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.