Complex Small Supernumerary Marker Chromosome Leading to Partial 4q/21q Duplications: Clinical Implication and Review of the Literature
| Autor: | Fernanda Teixeira da Silva Bellucco, Ana B. Alvarez Perez, Rodrigo Ambrosio Fock, Hélio Rodrigues de Oliveira-Junior, Maria Isabel Melaragno |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Adolescent Chromosomes Human Pair 21 Marker chromosome Genetic counseling Chromosomal translocation 030105 genetics & heredity Biology Polymorphism Single Nucleotide Translocation Genetic 03 medical and health sciences 0302 clinical medicine Chromosome Duplication Gene duplication Genetics Humans Multiplex ligation-dependent probe amplification Molecular Biology Small supernumerary marker chromosome Genetics (clinical) Chromosome Aberrations 030219 obstetrics & reproductive medicine Chromosome Chromosome Banding Cytogenetic Analysis Female Maternal Inheritance Chromosomes Human Pair 4 SNP array |
| Zdroj: | Cytogenetic and Genome Research. 156:173-178 |
| ISSN: | 1424-859X 1424-8581 |
| DOI: | 10.1159/000494682 |
| Popis: | Complex small marker chromosomes (sSMCs) consist of chromosomal material derived from more than 1 chromosome. Complex sSMCs derived from chromosomes 4 and 21 are rare, with only 7 cases reported. Here, we describe a patient who presented with a complex sSMC derived from a maternal translocation between chromosomes 4 and 21, which was revealed by G-banding, MLPA, and array techniques. The marker chromosome der(21)t(4;21)(q32.1; q21.2)mat is composed of a 25.6-Mb 21pterq21.2 duplication and a 32.1-Mb 4q32.1q35.2 duplication. In comparison to patients with sSMCs derived from chromosomes 4 and 21, our patient showed a similar phenotype with neuropsychomotor developmental delay and facial dysmorphism as the most important finding, being a composition of the findings found in pure 4q and 21q duplications. The wide range of phenotypes associated with sSMCs emphasizes the importance of detailed cytogenomic analyses for an accurate diagnosis, prognosis, and genetic counseling. |
| Databáze: | OpenAIRE |
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