Evidence map›Paper›PMID 36312681›Full record

ArticleCureus2022

A Familial Case of Robertsonian Translocation 13;14: Case Report.

Sondas Saeed, Jawad Hassan, Sarah M Javed, Saira Shan, Maliha Naz

Abstract readCase Reports
In one paragraph

Article in Cureus, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. 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

5 authors.

Sondas SaeedCytogenetics, National Institute of Blood Disease and Bone Marrow Transplantation, Karachi, PAK.
Jawad HassanHaematology, National Institute of Blood Disease and Bone Marrow Transplantation, Karachi, PAK.
Sarah M JavedCytogenetics, National Institute of Blood Disease and Bone Marrow Transplantation, Karachi, PAK.
Saira ShanCytogenetics, National Institute of Blood Disease and Bone Marrow Transplantation, Karachi, PAK.
Maliha NazCytogenetics, National Institute of Blood Disease and Bone Marrow Transplantation, Karachi, PAK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Robertsonian translocations are the most common form of chromosomal abnormalities that specifically involve the acrocentric chromosomes. Robertsonian translocation between chromosomes 13,14 and 14,21 are the most frequently reported. Infertility is common in genetically balanced carriers of these translocations, and their conceptions are more likely to have imbalances. Here we have reported a case of an 18-year-old female presenting with a complaint of primary amenorrhea. Cytogenetic analysis revealed a familial case of maternally inherited Robertsonian translocation (rob(13;14)(q10;q10)) affecting all the siblings. Genetic counseling and genetic testing are recommended especially in familial cases as the carriers are normal but can lead to several genetic disorders in their future generation.

Indexed as

acrocentriccytogenetic analysisgenetic counselingprimary amenorrhearobertsonian translation

Identifiers

PMID36312681
PMCPMC9595257

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.