De Grouchy Syndrome

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). This condition, first described in the 1960s, has been described in over 100 case reports. De Grouchy syndrome type 1 is also called “monosomy 18p” , “18p deletion syndrome”, or “18p- syndrome.” For more information, see The Chromosome Research and Registry, http://chromosome18.org/Conditions/18p/tabid/126/Default.aspx 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. [ [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601808 OMIM - CHROMOSOME 18q DELETION SYNDROME ] ] Approximately 80% of individuals affected by the syndrome are below the fifth centile in height. [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]

References

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.