Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication
- 1 December 1994
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 46 (6) , 423-429
- https://doi.org/10.1111/j.1399-0004.1994.tb04410.x
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.Keywords
This publication has 13 references indexed in Scilit:
- Trisomy 18qter and trisomy mapping of chromosome 18Clinical Genetics, 2008
- Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotypeAmerican Journal of Medical Genetics, 1991
- Partial Trisomy of Chromosome 18 (pter→q12) following a Familial 18;21 Translocation rcp(18;21)(q12;q11)Human Heredity, 1989
- Sibs with tetrasomy 18p born to a mother with trisomy 18p.Journal of Medical Genetics, 1989
- Duplication 18p with mild influence on the phenotypeAmerican Journal of Medical Genetics, 1988
- Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentric regions of chromosomes 13, 18, and 21Cytogenetic and Genome Research, 1986
- Monosomy 18p and pure trisomy 18p in a family with translocation (7;18).Journal of Medical Genetics, 1983
- Partielle Trisomie 18 (Trisomie 18p) als Folge einer familiären balancierten Translokation t (14;18)Klinische Padiatrie, 1981
- Gene dosage effect for human triosephosphate isomerase and glyceraldehyde-3-phosphate dehydrogenase in partial trisomy 12p13 and trisomy 18pHuman Genetics, 1978
- Origin of a small metacentric chromosome: Familial and cytogenetic evidenceClinical Genetics, 1975