| Literature DB >> 7889659 |
U Moog1, J J Engelen, C E de Die-Smulders, J C Albrechts, W H Loneus, A A Haagen, E J Raven, A J Hamers.
Abstract
We report one patient with a de novo inversion duplication 18 (pter-->cen) and two cases of direct tandem duplication 18 (pter-->cen), one due to maternal inheritance and the other arising as mosaicism of unknown origin. The duplications are demonstrated by high resolution banding. They were verified by in situ hybridization with a paint specific for chromosome 18 and with DNA probe LI.84 specific for the centromere region of chromosome 18. FISH with the genomic DNA probe pHRR68 specific for 18p11.32 revealed a subtle deletion concomitantly involved in the case of inversion duplication 18p. The patients exhibit slight developmental delay/moderate mental retardation and only a few dysmorphic features. The literature on trisomy 18p is reviewed and the present cases are compared to it.Entities:
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Year: 1994 PMID： 7889659 DOI： 10.1111/j.1399-0004.1994.tb04410.x
Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438