Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
18q syndrome
Introduction
Overview
Overview
de Grouchy syndrome is a rare congenital medical condition caused by an abnormality involving chromosome 18. It has two forms, classified as type 1 or type 2, depending on the nature of the genetic lesion.
de Grouchy syndrome type 1 involves deletion of genes from the short arm of the chromosome (18p).
de Grouchy syndrome type 2 occurs when the long arm of the chromosome is affected (18q). It manifests clinically as mental retardation, short stature, hypotonia, hearing impairment, and foot deformities. Tapered digits and wide mouth have been described.[1] Approximately 80% of individuals affected by the syndrome are below the fifth centile in height.[2]
References
References
- ↑ http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601808
- ↑ Wilson, M. G.; Towner, J. W.; Forsman, I.; Sims, E.: Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]. Am. J. Med. Genet. 3: 155-174, 1979. PubMed ID : 474629
Further reading
Further reading
de Grouchy, J.; Royer, P.; Salmon, C.; Lamy, M.: Deletion partielle des bras longs du chromosome 18. Path et Biol. 12: 579-582, 1964.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]