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

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

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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

Tsitologiya i Genetika 2004, vol. 38, no. 4, pp. 55-61

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, vol. 38, no. 4, pp. 55-61.