Aberrant melanoblast migration associated with trisomy 18 mosaicism.
Open Access
- 1 April 1983
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 20 (2), 135-137
- https://doi.org/10.1136/jmg.20.2.135
Abstract
A patient is reported with mental retardation, facial and body asymmetry, and hyperpigmented areas limited to the right side of the body. Cytogenetic studies revealed trisomy 18 in 50% of peripheral blood lymphocytes; fibroblast cultures from the hyperpigmented area showed pure trisomy 18, while the karyotype on the unaffected side was normal. This could be an example of the 'lines of Blaschko', considered to be a form of 'human mosaicism', in which an abnormality occurred in melanocytes migrating from the neural crest. Non-disjunction of one chromosome 18 appears to be associated with the mutational event that caused abnormal migration of melanoblasts.Keywords
This publication has 16 references indexed in Scilit:
- Mosaic 45,X/47,XY,+18Human Genetics, 1977
- The lines of Blaschko: a review and reconsiderationBritish Journal of Dermatology, 1976
- Trisomy 18 mosaicism in two siblingsClinical Genetics, 1974
- Turner Phenotype: Mosaic 45,X/47,XY,+18Journal of Medical Genetics, 1974
- A RAPID BANDING TECHNIQUE FOR HUMAN CHROMOSOMESThe Lancet, 1971
- A case of trisomy 18 mosaicism with peculiar featuresHuman Genetics, 1970
- Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.Journal of Medical Genetics, 1968
- Congenital Asymmetry Associated with Trisomy 18 MosaicismArchives of Pediatrics & Adolescent Medicine, 1965
- AN EXPERIMENTAL APPROACH TO THE PROBLEM OF SPOTTINESS.British Journal of Dermatology, 1965
- Chromosome preparations of leukocytes cultured from human peripheral bloodExperimental Cell Research, 1960