Monosomy 18q 12.1→21.1: A recognizable aneuploidy syndrome? Report of a patient and review of the literature
- 7 June 1992
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 43 (3), 531-534
- https://doi.org/10.1002/ajmg.1320430306
Abstract
This report of a patient with an interstitial deletion 18q and review of previously described cases suggest a clinically recognizable syndrome. The phenotype appears to result from a microdeletion of part of 18q12.2 or q12.3, or a deletion of parts of both bands.Keywords
This publication has 6 references indexed in Scilit:
- Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.Journal of Medical Genetics, 1991
- Obesity and abnormal behaviour associated with interstitial deletion of chromosome 18 (q12.2q21.1).Journal of Medical Genetics, 1989
- Prenatal diagnosis of mosaicism for del(18)(q12.2q21.1) and a normal cell line.Journal of Medical Genetics, 1988
- Trisomy 18q‐. Trisomy mapping of chromosome 18 revisitedClinical Genetics, 1980
- Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]American Journal of Medical Genetics, 1979
- Familial mental retardation in a family with an inherited chromosome rearrangementJournal of Medical Genetics, 1974