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Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication
Author(s) -
Moog U.,
Engelen J. J. M.,
DieSmulders C. E. M.,
Albrechts J. C. M.,
Loneus W. H.,
Haagen A. A. M.,
Raven E. J. M.,
Hamers A. J. H.
Publication year - 1994
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1994.tb04410.x
Subject(s) - gene duplication , chromosomal inversion , genetics , partial trisomy , trisomy , biology , chromosome , karyotype , gene
We report one patient with a de novo inversion duplication 18 (ptercen) and two cases of direct tandem duplication 18 (ptercen), 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.