Evidence map›Paper›PMID 40001246›Full record

ArticleMolecular cytogenetics2025

Whole genome uniparental isodisomy detected using single nucleotide polymorphism (SNP) microarray in molar pregnancy: a case report.

Onyinye O Okonkwo, Veronica Ortega, Sheila Kane, Galina Aldrete, Paulina Ramirez, Philip T Valente, Gopalrao V N Velagaleti

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular cytogenetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Onyinye O OkonkwoDepartments of Pathology and Laboratory Medicine, UT-Health San Antonio, 7703 Floyd Curl Drive, San Antonio, TX, 78229, USA.
Veronica OrtegaDepartments of Pathology and Laboratory Medicine, UT-Health San Antonio, 7703 Floyd Curl Drive, San Antonio, TX, 78229, USA.
Sheila KaneDepartments of Pathology and Laboratory Medicine, UT-Health San Antonio, 7703 Floyd Curl Drive, San Antonio, TX, 78229, USA.
Galina AldreteDepartments of Pathology and Laboratory Medicine, UT-Health San Antonio, 7703 Floyd Curl Drive, San Antonio, TX, 78229, USA.
Paulina RamirezDepartment of Obstetrics and Gynecology, UT-Health San Antonio, San Antonio, TX, USA.
Philip T ValenteDepartments of Pathology and Laboratory Medicine, UT-Health San Antonio, 7703 Floyd Curl Drive, San Antonio, TX, 78229, USA.
Gopalrao V N VelagaletiDepartments of Pathology and Laboratory Medicine, UT-Health San Antonio, 7703 Floyd Curl Drive, San Antonio, TX, 78229, USA. velagaleti@uthscsa.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGestational trophoblastic neoplasms consist of complete and partial hydatidiform moles, both of which are considered aberrant conceptuses. Both conditions, complete hydatidiform mole (CHM) and partial hydatidiform mole (PHM), differ in histological characteristics, genetic origin and content and clinical features. CHM have a diploid karyotype, mostly 46,XX but lack maternal genetic contribution with all chromosomes of paternal origin. High-resolution SNP microarray testing is an efficient method used to determine the parental contribution of the genomic material in molar pregnancies and confirm the diagnosis. CASE PRESENTATION: We present a case of CHM in a 43-year-old, G3P2Ab1 who presented to the emergency department with 2 episodes of heavy bleeding. Chromosome analysis showed a normal 46,XX karyotype but with a homozygous pericentric inversion on chromosome 9. High-resolution SNP microarray studies detected whole genome uniparental isodisomy.

conclusionWe present a case of CHM with homozygous pericentric inversion on chromosome 9 and whole genome uniparental isodisomy. This case illustrates the efficacy of high-resolution SNP microarray in confirming the diagnosis of CHM.

Indexed as

Complete hydatidiform mole (CHM)Homozygous inversionSingle nucleotide polymorphism (SNP) microarrayUniparental disomy (UPD)

Identifiers

PMID40001246
PMCPMC11863443

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.