Evidence map›Paper›PMID 26407917›Full record

ArticleAmerican journal of medical genetics. Part A2016

Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management.

Lauren E Hipp, Lauren H Mohnach, Sainan Wei, Inas H Thomas, Maha E Elhassan, David E Sandberg, Elisabeth H Quint, Catherine E Keegan

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Genetics of Disorders of Sex Development: The DSD-TRN Experience.Endocrinology and metabolism clinics of North America · 2017
    Review
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.

Lauren E HippDepartment of Internal Medicine, Molecular Medicine & Genetics, University of Michigan, Ann Arbor, Michigan.
Lauren H MohnachDepartment of Obstetrics & Gynecology, University of Michigan, Ann Arbor, Michigan.
Sainan WeiDepartment of Pediatrics and Human Development, Michigan State University, East Lansing, Michigan.
Inas H ThomasDivision of Endocrinology, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan.
Maha E ElhassanDivision of Endocrinology, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan.
David E SandbergDivision of Pediatric Psychology and Child Health Evaluation & Research (CHEAR) Unit, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan.
Elisabeth H QuintDepartment of Obstetrics & Gynecology, University of Michigan, Ann Arbor, Michigan.
Catherine E KeeganDivision of Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan.

Funding

Disorders of Sex Development: Platform for Basic and Translational ResearchR01HD068138 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI SANDBERG, DAVID ERIC, VILAIN, ERIC J. · 2011 to 2015
$4.0M
NICHD NIH HHS R01 HD068138
6 · The paper itself

Abstract

Carriers of isodicentric Y (idicY) mosaicism exhibit a wide range of clinical features, including short stature, gonadal abnormalities, and external genital anomalies. However, the phenotypic spectrum for individuals carrying an idicY and a 46, XX cell line is less clearly defined. A more complete description of the phenotype related to idicY is thus essential to guide management related to pubertal development, fertility, and gonadoblastoma risk in mosaic carriers. Findings from the evaluation of twin females with an abnormal karyotype, 48, XX, +idic(Yq) x2/47, XX, +idic(Yq)/46, XX, are presented to highlight the importance of interdisciplinary care in the management of multifaceted disorders of sex development.

Indexed as

Abnormal KaryotypeMosaicismSex Chromosome AberrationsAdolescentChromosomes, Human, XChromosomes, Human, YCognition DisordersDisorders of Sex DevelopmentFemaleHumansTwinsdisorders of sex developmentgonadoblastomainterdisciplinary careisodicentric Ymosaicism

Identifiers

PMID26407917
PMCPMC5036387

What OpenQuestion holds

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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.