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

TSitologiia i genetika 2004, v 38, Issue 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

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 // Tsitol Genet. – 2004. – 38(4). – P. 55-61.