Prenatal diagnosis and genetic counseling of mosaicism for chromosome t (7; 14) with a favorable outcome

Abstract

We report a case of prenatal diagnosis of mosaicism for chromosome t (7; 14) with a favorable fetal outcome. Similar chromosomal abnormalities have been observed in patients with hematologic malignancy. Chromosomal microarray analysis (CMA) revealed no genomic imbalance, prenatal ultrasound examination revealed no intrauterine growth restriction (IUGR) or dysmorphisms in this fetus. Therefore, combination of karyotype analysis, CMA, genetic counseling and prenatal ultrasound will prove a more specific risk evaluation for chromosomal translocation and mosaicism.

Keywords

• karyotype analysis
• cma
• chromosome translocation
• mosaic
• hematologic malignancy
• prenatal diagnosis