A newborn with ambiguous genitalia and a complex X;Y rearrangement.

Mohammadreza Dehghani, Elena Rossi, Annalisa Vetro, Gianni Russo, Zahra Hashemian, Orsetta Zuffardi

Open access · greenAbstract readCase Reports

In one paragraph

Article in Iranian journal of reproductive medicine, 2014. 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, top 100% of its field

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 citations in OpenAlex.

The Role of Number of Copies, Structure, Behavior and Copy Number Variations (CNV) of the Y Chromosome in Male Infertility.Genes · 2019
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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

6 authors at 4 institutions in 2 countries.

Mohammadreza DehghaniDepartment of Molecular Medicine, University of Pavia, Pavia, Italy. ; Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

Elena RossiDepartment of Molecular Medicine, University of Pavia, Pavia, Italy.

Annalisa VetroBiotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

Gianni RussoDepartment of Pediatrics, Endocrine Unit, University Vita-Salute, San Raffaele Hospital, Italy.

Zahra HashemianShahid Sadoughi Hospital, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

Orsetta ZuffardiDepartment of Molecular Medicine, University of Pavia, Pavia, Italy.

University of Pavia · ITIstituti di Ricovero e Cura a Carattere Scientifico · ITShahid Sadoughi University of Medical Sciences and Health Services · IRVita-Salute San Raffaele University · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIn most mammals, sex is determined at the beginning of gestation by the constitution of the sex chromosomes, XY in males and XX in females. CASE: Here we report an interesting case characterized by ambiguous genitalia and ovotestis in a newborn carrying an apparently female karyotype (46 XX). Array Comparative Genomic Hybridization (Array-CGH) revealed an unbalanced rearrangement resulting in the deletion of the distal Xp and the duplication of the proximal Xp contiguous region with presence of the Y chromosome from Ypter to Yq11. Fluorescent in situ hybridization (FISH) showed that this portion of the Y was translocated to the tip of the abnormal X and that the duplicated portion of chromosome X was inverted. Altogether, the abnormal chromosome was a dicentric one with the centromere of the Y chromosome apparently inactivated.

conclusionThe presence within the translocated Y chromosome of the SRY gene explains the devolopment of testes although it is not clear the reason for the genitalia ambiguity.

Indexed as

46Ambiguous genitaliaArray Comparative Genomic HybridizationFISHInverted duplication and Xp terminal Deletion(Invdup del)RearrangementXX testicular DSD

Identifiers

PMID25031580

PMCPMC4094661

OpenAlexW29738100

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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.