Description
Maternal isodicentric chromosome 15 (idic(15)) The variant was initially identified through a Next Generation Sequencing (NGS) gene panel with bioinformatic prediction of copy number variants (CNVs), sequenced on a MiSeq sequencer. Subsequently, it was confirmed using multiplex ligation-dependent probe amplification (MLPA, SALSA MLPA Probemix ME028 Prader-Willi/Angelman version C1), which includes both copy number variations and methylation status of the 15q11 region. The observed copy number gains were as follows: asymmetrical breakpoints cen-BP3 (4 copies), BP3-BP4 (3 copies). Additionally, this copy number gain was also studied through karyotype (Giemsa-Trypsin banding from peripheral blood lymphocytes using standard G-banding-procedures) and fluorescence in situ hybridization (FISH, on metaphase chromosomes and interphase nucleus, using the Prader-Willi/Angelman Critical Region probe SNRPN; Vysis, Abbott Laboratories, USA). Finally, the genomic content of this chromosomal rearrangement was characterized by array comparative genomic hybridization (a-CGH, SurePrint G3 Unrestricted CGH ISCA v2, 8x60K oligo-array; Analysis software: Agilent CytoGenomics 5.2.1.4; Equipment: SureScan Microarray Scanner, Agilent Technologies, USA). 47,XY,+mar.ish idic(15)(q12)(SNRPN++).arr[GRCh38] 15q11.2q13.1(22612582_28435882x4,28785312_29993699x3)
# | Sample | Method | Observation |
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Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
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1 | germline | yes | 1 | not provided | not provided | | not provided | not provided | not provided | not provided |