AI Article Synopsis
- The purpose of the study was to use SNP array analysis to check for genomic copy number variants (CNVs) in a fetus, whose sibling has Prader-Willi syndrome.
- Results showed a 5p15.33 microdeletion in the fetus and its phenotypically normal mother, but it was classified as a variant of unclear significance after literature and database review.
- Despite the microdeletion, the couple continued the pregnancy and later delivered a healthy boy with no abnormalities noted during follow-up.
Article Abstract
Objective: To screen for genomic copy number variants (CNVs) in a fetus with one sibling affected with Prader-Willi syndrome using single nucleotide polymorphism (SNP) array.
Methods: The fetus and its parents were subjected to chromosomal karyotyping and SNP array analysis.
Results: A 5p15.33 microdeletions was identified in the fetus and its phenotypically normal mother with a size of 344 kb (113 576 to 457 213). The father was normal for both testing. Analysis of literature and CNVs database indicated the above CNV to be variant of unclear significance. The couple decided to continue with the pregnancy and gave birth to a healthy boy at full-term. No abnormalities were found during the follow-up.
Conclusion: This study may provide further data for the phenotype-genotype correlation of 5p15.33 microdeletion, which differs from Cri du Chat syndrome.
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| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2017.03.023 | DOI Listing |
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