Prenatal diagnosis of a fetus with 5p15.33 microdeletion / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>The fetus and its parents were subjected to chromosomal karyotyping and SNP array analysis.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>This study may provide further data for the phenotype-genotype correlation of 5p15.33 microdeletion, which differs from Cri du Chat syndrome.</p>