Prenatal diagnosis of a case with combined Wolf-Hirschhorn syndrome and Jacobsen syndrome / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect chromosomal imbalance in a fetus with complex congenital heart disease, and to correlate the genotype with the phenotype.</p><p><b>METHODS</b>Routine G-banding was carried out to analyze the karyotypes of the fetus and its parents, and single nucleotide polymorphisms array (SNP-array) was used for delineating fine genomic aberrations. The detected aberrations were confirmed with multiplex ligation-dependent probe amplification (MLPA).</p><p><b>RESULTS</b>The fetus and its parents all showed a normal karyotype, while array-SNP has detected a 13.87 Mb duplication at 4p16.3-p15.33 and a 15.65 Mb deletion at 11q23.3-q25 in the fetus. The results were confirmed by the MLPA assay.</p><p><b>CONCLUSION</b>The partial trisomy 4p (Wolf-Hirschhorn syndrome) and partial monosomy 11q (Jacobsen syndrome) probably underlie the complex heart defects detected in the fetus. Analysis of the karyotypes of its parents offered no help for the determination of the aberrant type and recurrent risk. Compared with routine karyotype analysis, aberrant regions can be identified with array-SNP with greater resolution and accuracy. This has provided useful information for prenatal diagnosis and genetic counseling.</p>