Practice of Consanguinity and Unusual Cases of Inherited Familial Chromosome Abnormalities: A Case Report.

Debarshi Sanyal, Vidya Bhairi, Jayarama S Kadandale

Open access · greenAbstract readCase Reports

In one paragraph

Article in International journal of molecular and cellular medicine, 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, top 97% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

Pericentric inversion of chromosome 6 and male fertility problems.Open medicine (Warsaw, Poland) · 2022
Article
Chromosomal Aberrations in 224 Couples with Recurrent Pregnancy Loss.Journal of human reproductive sciences
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

3 authors at 2 institutions in 1 country.

Debarshi SanyalLilac Insight Pvt Ltd, Ambience Court, 19 Floor, Unit 1901 & 1902, Sec-19 Vashi, Navi Mumbai 400705 Maharashtra, India.

Vidya BhairiLilac Insight Pvt Ltd, Ambience Court, 19 Floor, Unit 1901 & 1902, Sec-19 Vashi, Navi Mumbai 400705 Maharashtra, India.

Jayarama S KadandaleCentre For Human Genetics, Biotech Park, Electronic City, Phase- I, Bangalore-560100, Karnataka, India.

Bharat Serums and Vaccines (India) · INCentre For Human Genetics · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We present 2 cases of likely rare event. In case 1, 3(rd) degree consanguineous marriage revealed inv(6) with same break points in parents who were found to be phenotypically normal. The same inv(6) being inherited in progeny but presented with low AMH (anti Mullerian hormone) and high level of FSH (follicular stimulating hormone) leading to polycystic ovarian syndrome/premature ovarian failure. In case 2, a couple was presented with 2(nd) degree consanguineous marriage and referred for 2 recurrent/ missed abortions. The amounts of shared genes are suggestive of more lethal genetic outcomes and inferred endogamy is a major driver to reproductive fiascoes, the ancestries of which are deeply tied at the meiotic level.

Indexed as

Consanguinityconventional cytogeneticsendogamyfamilial translocationsinversion

Identifiers

PMID27386439

PMCPMC4916784

OpenAlexW2401939372

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.