Different conformation of two supernumerary 18p isochromosomes, one with a concomitant partial 18q trisomy |
| |
Authors: | A R Noronha Dutra T I Mancini S Satomi Takeno M Moysés Oliveira C A Kim A B Alvarez Perez L Domenici Kulikowski M I Melaragno |
| |
Affiliation: | Disciplina de Genética, Departamento de Morfologia e Genética, Universidade de S?o Paulo, S?o Paulo, Brasil. |
| |
Abstract: | The presence of a supernumerary 18p isochromosome is a rare chromosomal abnormality that results in 18p tetrasomy. This is a report on the clinical, cytogenetic and molecular findings of 2 non-related patients with a supernumerary 18p isochromosome. Both patients present some features of the 18p tetrasomy syndrome (strabismus, low-set ears, long and narrow fingers and toes), but additional characteristics were also observed. Cytogenetic analysis, FISH, MLPA and SNP array techniques showed that one of the isochromosomes is symmetric and monocentric, while the other is asymmetric and dicentric, yet resulting in a similar tetrasomy of the 18pter-18p10 region, followed by a partial 18q11.2 trisomy, an unprecedented finding in the literature. |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |
|