Prenatal diagnosis and genetic analysis of a special case with complex structural rearrangements of chromosome 8

Objective: To present on a prenatally diagnosed case with complex structural rearrangements of chromosome 8.

Methods: Chromosome karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for a fetus with increased nuchal thickness.

Results: The karyotype of the amniotic fluid sample showed extra materials on 8p. FISH revealed a centromeric signal at the terminal of 8p with absence of telomeric signal. CMA revealed partial deletion of 8p23.3 [(208049_2256732)×1], partial duplication of 8p23.3p23.2 [(2259519_3016818)×3], and partial duplication of 8q [8q11.1q12.2(45951900_60989083)×3].

Conclusions: The complex structural rearrangements of chromosome 8 in this case has differed from the commonly seen inv dup del(8p).