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Mol Cytogenet. 2019 Mar 11;12:13. doi: 10.1186/s13039-019-0425-5. eCollection 2019.

Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis.

Author information

1
Fujian Provincial Key Laboratory for Prenatal diagnosis and Birth Defect, Fujian Provincial Maternity and Children's Hospital, affiliated hospital of Fujian Medical University, Fuzhou, 350001 Fujian China.
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Contributed equally

Abstract

Background:

This study aimed to evaluate the feasibility of chromosomal microarray analysis (CMA) in detecting the origin and structure of small supernumerary marker chromosomes (sSMCs) in prenatal and postnatal cases and to clarify sSMC-related genotype-phenotype correlations.

Results:

Thirty-three cases carrying sSMCs were identified by banding cytogenetics. Of these cases, twenty-nine were first characterized by CMA and only two by FISH. The remaining two cases were excluded for their refusal to accept further examination. The chromosomal origins of twenty-two cases were successfully identified, in which pathogenetic copy number variations (PCNVs) were found in sixteen cases, four cases showed variants of uncertain significance (VOUS), one case showed benign CNVs, and one case showed probable PCNVs. For the nine cases with negative CMA results, only one of them contained centromere heterochromatin likely due to its normal phenotype, whereas reasons for the remaining eight cases were uncertain. We also found that CMA results indicating pathogenic abnormalities further affect the rate of pregnancy termination.

Conclusions:

This study showed that CMA combined with cytogenetic analysis is particularly effective in identifying sSMCs. However, in order to establish sSMC-related genotype-phenotype correlations, the inclusion of more sSMC cases will be necessary in future studies.

KEYWORDS:

Chromosome microarray analysis; Copy number variation; Fluorescence in situ hybridization; Prenatal diagnosis; Small supernumerary marker chromosome

Conflict of interest statement

Fujian Provincial Key Laboratory for Prenatal diagnosis and Birth Defect, Fujian Provincial Maternity and Children’s Hospital, affiliated hospital of Fujian Medical University, Fuzhou, Fujian, China.The study was approved by the ethics boards of Fujian Provincial Maternity and Children’s Hospital (N0.12 and No.11), Each patient received written informed consent for participation. All procedures were performed in accordance with the Declaration of Helsinki.Informed written consent was obtained from parents for publication for images and other clinical information relating to these cases to be reported for academic purpose.The authors declare that they have no competing interests.Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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