Evidence map›Paper›PMID 34026173›Full record

ArticleClinical case reports2021

A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal.

Susan Cordes Selby, Aiko Iwata-Otsubo, Paula Delk, Todd D Nebesio, Anisha Gohil, Peggy Matlock, Wilfredo Torres-Martinez, Gail H Vance

Abstract readCase Reports
In one paragraph

Article in Clinical case reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Article
  3. 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

8 authors.

Susan Cordes SelbyCommunity Health Network, Maternal-Fetal Medicine Indianapolis IN USA.
Aiko Iwata-OtsuboDepartment of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN USA.
Paula DelkDepartment of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN USA.
Todd D NebesioDivision of Pediatric Endocrinology/Diabetology Department of Pediatrics Indiana University School of Medicine Indianapolis IN USA.
Anisha GohilDivision of Pediatric Endocrinology/Diabetology Department of Pediatrics Indiana University School of Medicine Indianapolis IN USA.
Peggy MatlockDepartment of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN USA.
Wilfredo Torres-MartinezDepartment of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN USA.
Gail H VanceDepartment of Medical and Molecular Genetics Indiana University School of Medicine Indianapolis IN USA.ORCID https://orcid.org/0000-0002-7424-2921

Funding

Endocrine Scientist Training ProgramT32DK065549 · NIDDK · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI EUGSTER, ERICA A · 2005 to 2019
$2.4M
NIDDK NIH HHS T32 DK065549
6 · The paper itself

Abstract

Two siblings with the same male unbalanced karyotype demonstrate sex reversal. The older sib appeared phenotypically female and the younger sib demonstrated a male gender. The female had gonadal dysgenesis with bilateral ovatestes. The male had bilateral testes. The report discusses the phenotypical differences and genes associated with sex reversal.

Indexed as

3p duplication9p deletiondisorders of sex developmentDMRT1

Identifiers

PMID34026173
PMCPMC8136447

What OpenQuestion holds

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Registered trials

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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.