Cytogenetic and histological features of a human embryo with homogeneous chromosome 8 trisomy

Homogeneous and complete trisomy 8 is extremely rare. With one recent neonatal exception, all reported cases have been mosaic, due to mitotic non-disjunction during early zygotic development. We report a case of chromosome 8 trisomy in a human embryo examined at Carnegie stage 11 (25 days post-fertilization). It presented severe cardiovascular and central nervous system malformations.

The unusual bifid heart in this embryo spurred a detailed histological examination, karyotyping of a chorionic villus sample and subsequent FISH on inter-phase nuclei of intra-embryonic sections.

Trophoblast cells had a karyotype of 47,XX, +8. Within the embryo proper, FISH demonstrated that the trisomy 8 was homogeneous in embryonic as well as extra-embryonic tissues. FQ-PCR supports a meiosis I origin of non-disjunction. In sections, the pharyngeal arches (including cardiac outflow tract), forebrain, mesonephros and liver were absent. Somites and yolk sac blood vessels were irregularly shaped.

We show that homogeneous, intra-embryonic trisomy 8 is compatible with implantation and early human development. Molecular pathways that may be compromised and their impact on organogenesis are discussed.