Supplementary Material for: 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
Niida Y.
Sato H.
Ozaki M.
Itoh M.
Ikeno K.
Takase E.
10.6084/m9.figshare.4047441.v1
https://karger.figshare.com/articles/dataset/Supplementary_Material_for_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/4047441
<br>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.
2016-10-21 10:02:55
Angelman syndrome
Multicolor FISH
SNP array
Translocation
Uniparental disomy