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Article

Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies.

Prenatal diagnosis - 1 Jan 2018

Daum Hagit, Lerer Israela, Frumkin Ayala, Rosenak Daniel, Yanai Nili, Porat Shay, Yagel Simcha, Meiner Vardiella

Abstract excerpt

OBJECTIVES: Chromosomal microarray analysis is effectively applied prenatally to detect copy number changes. Single nucleotide polymorphism (SNP) probes included in the microarray platform can detect regions of excessive homozygosity and identical-by-descent genomic stretches. The utility of the latter as part of prenatal diagnosis is not well established. Recessive founder mutations are well recognized within...

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Source

Identifiers

PMID: 29327352
DOI: 10.1002/pd.5201

Genes

BSND
FKTN
PKHD1

Variants

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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