Evidence map›Paper›PMID 25493098›Full record

ArticleMolecular cytogenetics2014

16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance.

Mingran Sun, Han Zhang, Guiying Li, Xianfu Wang, Xianglan Lu, Andrea Sternenberger, Carrie Guy, Wenfu Li, Jiyun Lee, Lei Zheng and 1 more

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

Article in Molecular cytogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
1.3field-weighted citation impact, top 20% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.

  1. Pooled it
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  3. Article
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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

11 authors at 4 institutions in 4 countries.

Mingran SunDepartment of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA ; Key Laboratory for Molecular Enzymology and Engineering, College of Life Sciences, Jilin University, Changchun, Jilin 130012 P. R. China.
Han ZhangDepartment of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA ; Department of Obstetrics and Gynecology, Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia V6T 1Z4 Canada.
Guiying LiKey Laboratory for Molecular Enzymology and Engineering, College of Life Sciences, Jilin University, Changchun, Jilin 130012 P. R. China.
Xianfu WangDepartment of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA.
Xianglan LuDepartment of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA.
Andrea SternenbergerDepartment of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA.
Carrie GuyDepartment of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA.
Wenfu LiDepartment of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA.
Jiyun LeeDepartment of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA ; Department of Pathology, College of Medicine, Korea University, Seoul, 136-701 South Korea.
Lei ZhengDepartment of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA ; Genetics Laboratory, Gansu Provincial Maternity and Child-Care Hospital, Lanzhou, Gansu 730050 P. R. China.
Shibo LiDepartment of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104 USA.
University of Oklahoma Health Sciences Center · USGansu Provincial Maternal and Child Health Hospital · CNJilin University · CNUniversity of British Columbia · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPierre Robin sequence (PRS) is a condition present at birth. It is characterized by micrognathia, cleft palate, upper airway obstruction, and feeding problems. Multiple etiologies including genetic defects have been documented in patients with syndromic, non-syndromic, and isolated PRS. CASE PRESENTATION: We report a 4-year-old boy with a complex small supernumerary marker chromosome (sSMC) who had non-syndromic Pierre Robin sequence (PRS). The complex marker chromosome, der(14)t(14;16)(q11.2;p13.13), was initially identified by routine chromosomal analysis and subsequently characterized by array-comparative genomic hybridization (array CGH) and confirmed by fluorescence in situ hybridization (FISH). Clinical manifestations included micrognathia, U-type cleft palate, bilateral congenital ptosis, upslanted and small eyes, bilateral inguinal hernias, umbilical hernia, bilateral clubfoot, and short fingers and toes. To our best knowledge, this was the first case diagnosed with non-syndromic PRS associated with a complex sSMC, which involved a 3.8 Mb gain in the 14q11.2 region and an 11.8 Mb gain in the 16p13.13-pter region.

conclusionsWe suggest that the duplicated chromosome segment 16p13.3 possibly may be responsible for the phenotypes of our case and also may be a candidate locus of non-syndromic PRS. The duplicated CREBBP gene within chromosome 16p13.3 is associated with incomplete penetrance regarding the mandible development anomalies. Further studies of similar cases are needed to support our findings.

Indexed as

16p13.3Array CGHFISHPierre robin sequenceSmall supernumerary marker chromosome

Identifiers

PMID25493098
PMCPMC4260201
OpenAlexW2132427809

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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.