Prenatal diagnosis of partial trisomy 1q using fluorescent in situ hybridization.

摘要: We report the use of fluorescent in situ hybridization (FISH) with a DNA library chromosome 1-specific probes to confirm karyotype, 46,XY,15, + der15,t(1;15)(q32.1; q26.3), obtained by prenatal periumbilical blood sampling from fetus who exhibited multiple abnormalities ultrasound examination. GTG-banding chromosomes mother showed normal while father was unavailable for study. The propositus born at 37 weeks gestation and survived several weeks. Cytogenetic analysis performed after birth male infant anomalies verified partial trisomy 1q. This patient is compared other 1q patients reported literature. usefulness FISH demonstrated situations where fetal are present de novo chromosomal rearrangements paternal © 1994 Wiley-Liss, Inc.