Molecular-cytogenetic identification of partial trisomy of a short arm of chromosome 8
Zerova-Liubimova, T.E.; Rigel, M.; Smul'skaia, N.A.; Evseenkova, E.G.; Gorovenko, N.G.; Shintzel, A.
Tsitologiia i Genetika 38(4): 55-61
2004
ISSN/ISBN: 0564-3783 PMID: 15715166 Document Number: 575064
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