| Autor: |
Niida, Yo, Sato, Hitoshi, Ozaki, Mamoru, Itoh, Masatsune, Ikeno, Kanju, Takase, Etsuko |
| Předmět: |
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| Zdroj: |
Cytogenetic & Genome Research; Dec2016, Vol. 149 Issue 4, p247-257, 11p, 1 Color Photograph, 2 Diagrams, 1 Chart, 1 Graph |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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