Chromosome 4, Monosomy Distal 4q
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 4, Monosomy Distal 4q
- 4q Deletion Syndrome, Partial
- Chromosome 4, 4q Terminal Deletion Syndrome
- Chromosome 4, Partial Monosomy 4q
- Del(4q) Syndrome, Partial
- Distal 4q Monosomy
- Distal 4q- Syndrome
- No subdivisions found.
Chromosome 4, Monosomy Distal 4q is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of the 4th chromosome. Associated symptoms and findings may be variable, depending upon the specific length and location of the deleted portion of chromosome 4. However, characteristic features include growth deficiency after birth (postnatal growth retardation), varying degrees of mental retardation, malformations of the skull and facial (craniofacial) region, structural heart defects, abnormalities of the hands and feet, and/or other physical findings. Chromosome 4, Monosomy Distal 4q usually appears to result from spontaneous (de novo) errors very early during embryonic development that occur for unknown reasons (sporadically).
Chromosome 4, Monosomy Distal 4q Resources
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., craniofacial abnormalities, congenital heart defects, mental retardation, 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, 1996, 2001, 2003, 2009
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.