Evidence map›Paper›PMID 29177010›Full record

ArticleMolecular cytogenetics2017

7p15 deletion as the cause of hand-foot-genital syndrome: a case report, literature review and proposal of a minimum region for this phenotype.

Emiy Yokoyama, Dennise Lesley Smith-Pellegrin, Silvia Sánchez, Bertha Molina, Alfredo Rodríguez, Rocío Juárez, Esther Lieberman, Silvia Avila, José Luis Castrillo, Victoria Del Castillo and 1 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular cytogenetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.2field-weighted citation impact, top 45% 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

0 citing papers in PubMed, 4 citations in OpenAlex.

No citing paper in PubMed yet.

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

11 authors at 1 institution in 1 country.

Emiy YokoyamaDepartamento de Genética Humana, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C, Colonia Insurgentes Cuicuilco, Coyoacán, Ciudad de México, CDMX, Mexico.
Dennise Lesley Smith-PellegrinDepartamento de Genética Humana, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C, Colonia Insurgentes Cuicuilco, Coyoacán, Ciudad de México, CDMX, Mexico.
Silvia SánchezLaboratorio de Citogenética, Departamento de Investigación en Genética Humana. Instituto Nacional de Pediatría, Avenida IMAN no. 1, Torre de Investigación, Colonia Insurgentes Cuicuilco, Coyoacán, Ciudad de México, CDMX, Mexico.
Bertha MolinaLaboratorio de Citogenética, Departamento de Investigación en Genética Humana. Instituto Nacional de Pediatría, Avenida IMAN no. 1, Torre de Investigación, Colonia Insurgentes Cuicuilco, Coyoacán, Ciudad de México, CDMX, Mexico.
Alfredo RodríguezLaboratorio de Citogenética, Departamento de Investigación en Genética Humana. Instituto Nacional de Pediatría, Avenida IMAN no. 1, Torre de Investigación, Colonia Insurgentes Cuicuilco, Coyoacán, Ciudad de México, CDMX, Mexico.
Rocío JuárezLaboratorio de Genética y Cáncer. Departamento de Genética Humana, Instituto Nacional de Pediatría, Avenida IMAN no. 1, Torre de Investigación, Colonia Insurgentes Cuicuilco, Coyoacán, México D.F, Mexico.
Esther LiebermanDepartamento de Genética Humana, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C, Colonia Insurgentes Cuicuilco, Coyoacán, Ciudad de México, CDMX, Mexico.
Silvia AvilaLaboratorio GENETADI, Bilbao, Spain.
José Luis CastrilloLaboratorio GENETADI, Bilbao, Spain.
Victoria Del CastilloDepartamento de Genética Humana, Instituto Nacional de Pediatría, Insurgentes Sur 3700-C, Colonia Insurgentes Cuicuilco, Coyoacán, Ciudad de México, CDMX, Mexico.
Sara FríasLaboratorio de Citogenética, Departamento de Investigación en Genética Humana. Instituto Nacional de Pediatría, Avenida IMAN no. 1, Torre de Investigación, Colonia Insurgentes Cuicuilco, Coyoacán, Ciudad de México, CDMX, Mexico.ORCID 0000-0002-3097-6368
Instituto Nacional de Pediatria · MX

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHand-foot-genital syndrome (HFGS) is a rare condition characterized by congenital malformations in the limbs and genitourinary tract. Generally, this syndrome occurs due to point mutations that cause loss of function of the CASE PRESENTATION: We describe a pediatric Mexican patient who came to the Medical Genetics Department at the National Institute of Pediatrics because he presented with genital, hand and feet anomalies, facial dysmorphisms, and learning difficulties. Array CGH reported a 12.7 Mb deletion that includes

conclusionsWe compared our patient with cases of HFGS reported in the literature caused by a microdeletion; we found a minimum shared region in 7p15.2. By analyzing the phenotype in these patients, we suggest that microdeletions in this region should be investigated in all patients with clinical characteristics of HFGS who also present with dysplastic ears, mainly low-set implantation with a prominent antihelix, as well as a low nasal bridge and long philtrum.

Indexed as

7p15 deletionHand-foot-genital syndromeHOXA13

Identifiers

PMID29177010
PMCPMC5688765
OpenAlexW2769654645

What OpenQuestion holds

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LicenceCC BY
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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.