Similar studies for GEO DataSets (Select 200302224) - GEO DataSets

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Items: 2

Select item 2003022241.

Intergenerational Regulation of Mosaic Supernumerary Chromosomes: Evidence for a Developmental Correction Mechanism from Clinical and Computational Models

(Submitter supplied) Objective This study presents a rare case of father-to-offspring mosaic transmission of a supernumerary marker chromosome (SMC) and, through integration of literature analysis and computational modeling, proposes a novel embryonic selection-based regulatory mechanism. Methods Karyotyping and SNP-array were performed on amniotic fluid, cord blood, and parental samples. A systematic review identified 35 additional mosaic SMC transmission cases. more...

Organism:: Homo sapiens

Type:: Genome variation profiling by SNP array

Platform:: GPL18637
2 Samples

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Series

Accession:: GSE302224

ID:: 200302224

PubMed Full text in PMC Similar studies

Select item 2002128702.

Array46 750k test is an in-depht analysis to detect chromosomal alterations, CNVs and SNPs

(Submitter supplied) The array46 750k study was performed in the DNA sample for mosaicism aneuploidy detection and loss or absence of heterozygosity. Samples include patients with phenotype associated with pigmentary mosaicism The array46 750k study was performed in the DNA sample to discard uniparental disomy (UPD)