Evidence map›Paper›PMID 31391865›Full record

ArticleMolecular cytogenetics2019

Submicroscopic aberrations of chromosome 16 in prenatal diagnosis.

Xiaoqing Wu, Liangpu Xu, Ying Li, Na Lin, Linjuan Su, Meiying Cai, Xiaorui Xie, Lin Zheng, Hailong Huang, Yuan Lin

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular cytogenetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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1 · What the graph read from it

What it found

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. A Very Rare Partial Trisomy Syndrome:Balkan journal of medical genetics : BJMG · 2020
    Article
4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Xiaoqing Wu *Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children's Hospital, affiliated Hospital of Fujian Medical University, No.18 Daoshan Road, Gulou District, Fuzhou, 350001 China.ORCID 0000-0003-2605-2362
Liangpu Xu *Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children's Hospital, affiliated Hospital of Fujian Medical University, No.18 Daoshan Road, Gulou District, Fuzhou, 350001 China.
Ying LiFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children's Hospital, affiliated Hospital of Fujian Medical University, No.18 Daoshan Road, Gulou District, Fuzhou, 350001 China.
Na LinFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children's Hospital, affiliated Hospital of Fujian Medical University, No.18 Daoshan Road, Gulou District, Fuzhou, 350001 China.
Linjuan SuFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children's Hospital, affiliated Hospital of Fujian Medical University, No.18 Daoshan Road, Gulou District, Fuzhou, 350001 China.
Meiying CaiFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children's Hospital, affiliated Hospital of Fujian Medical University, No.18 Daoshan Road, Gulou District, Fuzhou, 350001 China.
Xiaorui XieFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children's Hospital, affiliated Hospital of Fujian Medical University, No.18 Daoshan Road, Gulou District, Fuzhou, 350001 China.
Lin ZhengFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children's Hospital, affiliated Hospital of Fujian Medical University, No.18 Daoshan Road, Gulou District, Fuzhou, 350001 China.
Hailong HuangFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children's Hospital, affiliated Hospital of Fujian Medical University, No.18 Daoshan Road, Gulou District, Fuzhou, 350001 China.
Yuan LinFujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children's Hospital, affiliated Hospital of Fujian Medical University, No.18 Daoshan Road, Gulou District, Fuzhou, 350001 China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNearly 9.89% of chromosome 16 consists of segmental duplications, which makes it prone to non-homologous recombination. The present study aimed to investigate the incidence and perinatal characteristics of submicroscopic chromosome 16 aberrations in prenatal diagnosis.

resultsA total of 2,414 consecutive fetuses that underwent prenatal chromosomal microarray analysis (CMA) between January 2016 and December 2018 were reviewed. Submicroscopic anomalies of chromosome 16 accounted for 11.1% (15/134) of all submicroscopic anomalies detected in fetuses with normal karyotype, which was larger than the percentage of anomalies in any other chromosome. The 15 submicroscopic anomalies of chromosome 16 were identified in 14 cases; 12 of them had ultrasound abnormalities. They were classified as pathogenic (

conclusionSubmicroscopic aberrations of chromosome 16 are frequent findings in prenatal diagnosis, which emphasize the challenge of genetic counseling and the value of CMA. Prenatal diagnosis should lead to long-term monitoring of children with such chromosomal abnormalities for better understanding of the phenotype of chromosome 16 microdeletion and microduplication syndromes.

Indexed as

Chromosomal microarray analysisChromosome 16Prenatal diagnosisSubmicroscopic aberrations

Identifiers

PMID31391865
PMCPMC6681493

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