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Article

When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2018

Maya Idit, Sharony Reuven, Yacobson Shiri, Kahana Sarit, Yeshaya Josepha, Tenne Tamar, Agmon-Fishman Ifaat, Cohen-Vig Lital, Goldberg Yael, Berger Racheli, Basel-Salmon Lina, Shohat Mordechai

Abstract excerpt

PurposeTo compare the frequency of copy-number variants (CNVs) of variable penetrance in low-risk and high-risk prenatal samples and postnatal samples.MethodsTwo cohorts were categorized according to chromosomal microarray analysis (CMA) indication: group I, low-risk prenatal-women with uneventful pregnancy (control group); group II, high-risk prenatal-women whose fetuses had congenital malformations; and group...

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Share to Chromosome Aberrations
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28726807
DOI: 10.1038/gim.2017.89

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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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