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Article

Karyomapping allows preimplantation genetic diagnosis of a de-novo deletion undetectable using conventional PGD technology.

Reproductive biomedicine online - 1 Dec 2015

Giménez Carles, Sarasa Jonás, Arjona César, Vilamajó Ester, Martínez-Pasarell Olga, Wheeler Kenny, Valls Gemma, Garcia-Guixé Elena, Wells Dagan

Abstract excerpt

Preimplantation genetic diagnosis (PGD) was carried out for a couple carrying a de-novo deletion in the TSC2 gene, responsible for tuberous sclerosis. Karyomapping, a method employing genome-wide analysis of single nucleotide polymorphisms (SNP), was used as PGD protocol. Analysis of DNA from the affected parent using karyomapping confirmed the region covered by the deletion and revealed more than 30 SNP located...

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Source

Identifiers

PMID: 26507283
DOI: 10.1016/j.rbmo.2015.08.017

Genes

PGD
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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