Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Large regions of homozygosity in prenatal diagnosis.

American journal of medical genetics. Part A - 1 Oct 2024

Ma Di, Ye Mei, Hu Wenlong, Gao Hui, Wang Lijuan, Song Yaqin, Nie Rui, Hu Zhiyang, Guo Hui

Abstract excerpt

Chromosomal microarrays (CMA) incorporate single nucleotide polymorphisms to enable the detection of regions of homozygosity (ROH). Here, we retrospectively analyzed 6288 prenatal cases who performed CMA to explored the clinical implications of large ROH in prenatal diagnosis. We analyzed cases with ROH larger than 10 megabases and reviewed the ultrasound findings; karyotype results and pregnancy follow-up data....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Uniparental Disomy
Share to Genomic Imprinting
Share to Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymorphism, Single Nucleotide

Share to Pregnancy

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 38757552
DOI: 10.1002/ajmg.a.63712

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Large regions of homozygosity in prenatal diagnosis.PMID 38757552Read ↗

Prenatal diagnosis of fetuses with region of homozygosity detected by single nucleotide polymorphism array: a retrospective cohort study.Semantic proximity Read ↗

Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective studySemantic proximity Read ↗

Evaluation and Analysis of Absence of Homozygosity (AOH) Using Chromosome Analysis by Medium Coverage Whole Genome Sequencing (CMA-seq) in Prenatal DiagnosisSemantic proximity Read ↗

Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations.Semantic proximity Read ↗

Genetic Testing of Fetal Loss of Heterozygosity Using Single Nucleotide Polymorphism Array and Whole Exome SequencingSemantic proximity Read ↗

Chromosomal Microarray Analysis for Prenatal Diagnosis of Uniparental Disomy: A Retrospective StudySemantic proximity Read ↗

Genetic testing for fetal loss of heterozygosity using single nucleotide polymorphism array and whole-exome sequencing.Semantic proximity Read ↗

Exploring the human genomic landscape: patterns of common homozygosity regions in a large middle eastern cohort.Semantic proximity Read ↗

Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.Semantic proximity Read ↗

Prader-Willi syndrome with a long-contiguous stretch of homozygosity not covering the critical region.Semantic proximity Read ↗

Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of BrazilSemantic proximity Read ↗

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.