Prenatal diagnosis of 1p36.3 microdeletion in a fetus with complex heart defect / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To analyze a fetus presenting with complex heart defect and assess the recurrence risk.</p><p><b>METHODS</b>Conventional karyotyping, fluorescence in situ hybridization (FISH) and single nucleotide polymorphism-based array (SNP-array) were used to analyze the fetus and his parents.</p><p><b>RESULTS</b>SNP-array has detected a 6.9 Mb microdeletion at 1p36.33-p36.23 in the fetus. Chromosomal and FISH analyses indicated that the father of the fetus had a karyotype of 46,XY,t(1;14)(p36.3;p12), and that the fetus has inherited an abnormal chromosome 1 derived from the paternal translocation.</p><p><b>CONCLUSION</b>SNP-array combined with GTG banding and FISH can help to detect cryptic translocation, microdeletion or microduplication of chromosomes and is valuable to assess the recurrence risk for the affected family.</p>