[Molecular-cytogenetic identification of partial trisomy of a short arm of chromosome 8].

Autor: Zerova-Liubimova TE, Rigel M, Smul'skaia NA, Evseenkova EG, Gorovenko NG, Shintzel A
Jazyk: ruština
Zdroj: TSitologiia i genetika [Tsitol Genet] 2004 Jul-Aug; Vol. 38 (4), pp. 55-61.
Abstrakt: We present de novo diagnosed case of partial trisomy of short arm of chromosome 8 with psyhomotoric 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
Databáze: MEDLINE