Zerova-Ljubimova T.E., Rigel M., Smulskaja N.A., Evseenkova E.G., Gorovenko N.G., Shintzel A.

Molecular-cytogenetic identification of partial duplication of short arm of chromosome 8

Cytology and Genetics 2004, v 38, number 4, 55-61

We present de novo diagnosed case of partial trisomy of short arm of chromosome 8 with psyho-motoric delay and microanomalies. Inverted duplication of short arm of chromosome 8 was identified using molecular-cytogenetic method. This case is compared with literature data on the same cases. The further intensive study of such cases is necessary to delineate this chromosomal syndrome