Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature
| Autor: | Etsuko Takase, Hitoshi Sato, Masatsune Itoh, Kanju Ikeno, Yo Niida, Mamoru Ozaki |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine Monosomy Genetic counseling Trisomy Chromosomal translocation Locus (genetics) 030105 genetics & heredity Biology Translocation Genetic 03 medical and health sciences Angelman syndrome Gene duplication Genetics medicine Humans Molecular Biology In Situ Hybridization Fluorescence Genetics (clinical) Oligonucleotide Array Sequence Analysis Chromosome Aberrations Chromosomes Human Pair 15 Chromosomes Human X Chromosomes Human Pair 13 Infant Uniparental Disomy medicine.disease Phenotype Paternal Inheritance Female Maternal Inheritance Angelman Syndrome Chromosome Deletion SNP array |
| Zdroj: | Cytogenetic and Genome Research. 149:247-257 |
| ISSN: | 1424-859X 1424-8581 |
| Popis: | Less than 1% of the cases with Angelman syndrome (AS) are caused by chromosomal rearrangements. This category of AS is not well defined and may manifest atypical phenotypes. Here, we report a girl with AS due to der(13)t(13;15)(q14.1;q12)mat. SNP array detected the precise deletion/duplication points and the parental origin of the 15q deletion. Multicolor FISH confirmed a balanced translocation t(13;15)(q14.1;q12) in her mother. Her facial appearance showed some features of dup(13)(pter→q14). Also, she lacked the most characteristic and unique behavioral symptoms of AS, i.e., frequent laughter, happy demeanor, and easy excitability. A review of the literature indicated that AS cases caused by chromosomal rearrangements can be classified into 2 major categories and 4 groups. The first category is paternal uniparental disomy 15, which is subdivided into isodisomy by de novo rob(15;15) and heterodisomy caused by paternal translocation. The second category is the deletion of the AS locus due to maternal reciprocal translocation, which is subdivided into 2 groups associated with partial monosomy by 3:1 segregation and partial trisomy by adjacent-2 segregation. Classification into these categories facilitates the understanding of the mechanisms of chromosomal rearrangements and helps in accurate diagnosis and genetic counseling of these rare forms of AS. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|