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Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin.
Am J Med Genet. 2000 May 15; 92(2):101-6.AJ

Abstract

Structural abnormalities of chromosome 18p mainly consist of isochromosomes of the short arm, which result in tetrasomy 18p. Trisomy 18p is much rarer, and less well characterized. We report on a 12-year-old girl with minor facial anomalies, delayed development, abnormal hands, atopic dermatitis, and hearing loss. She was mosaic for two abnormal cell lines in peripheral blood. In 90% of cells, a dicentric chromosome with duplication of the whole short arm of chromosome 18 resulted in trisomy 18p; 10% of cells had monosomy 18p, arising from a t(14;18)(p11;q11). FISH mapping, with multiple region specific and locus specific probes from the short and long arm of chromosome 18, showed that the structure of the dicentric chromosome 18 was 18pter-->18q23::18q11-->18pter. DNA polymorphisms for chromosome 18 showed that the abnormalities of chromosome 18 were paternal in origin. Combining all results, we could link the trisomy 18p and monosomy 18p to a common origin via a complex series of events in an early mitosis.

Authors+Show Affiliations

Cytogenetics Department, Royal Alexandra Hospital for Children, Westmead, Australia.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10797432

Citation

Oner, G, et al. "Mosaic Rearrangement of Chromosome 18: Characterization By FISH Mapping and DNA Studies Shows Trisomy 18p and Monosomy 18p Both of Paternal Origin." American Journal of Medical Genetics, vol. 92, no. 2, 2000, pp. 101-6.
Oner G, Jauch A, Eggermann T, et al. Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin. Am J Med Genet. 2000;92(2):101-6.
Oner, G., Jauch, A., Eggermann, T., Hardwick, R., Kirsch, S., Schiebel, K., Rappold, G., Robson, L., & Smith, A. (2000). Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin. American Journal of Medical Genetics, 92(2), 101-6.
Oner G, et al. Mosaic Rearrangement of Chromosome 18: Characterization By FISH Mapping and DNA Studies Shows Trisomy 18p and Monosomy 18p Both of Paternal Origin. Am J Med Genet. 2000 May 15;92(2):101-6. PubMed PMID: 10797432.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin. AU - Oner,G, AU - Jauch,A, AU - Eggermann,T, AU - Hardwick,R, AU - Kirsch,S, AU - Schiebel,K, AU - Rappold,G, AU - Robson,L, AU - Smith,A, PY - 2000/5/8/pubmed PY - 2000/6/8/medline PY - 2000/5/8/entrez SP - 101 EP - 6 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 92 IS - 2 N2 - Structural abnormalities of chromosome 18p mainly consist of isochromosomes of the short arm, which result in tetrasomy 18p. Trisomy 18p is much rarer, and less well characterized. We report on a 12-year-old girl with minor facial anomalies, delayed development, abnormal hands, atopic dermatitis, and hearing loss. She was mosaic for two abnormal cell lines in peripheral blood. In 90% of cells, a dicentric chromosome with duplication of the whole short arm of chromosome 18 resulted in trisomy 18p; 10% of cells had monosomy 18p, arising from a t(14;18)(p11;q11). FISH mapping, with multiple region specific and locus specific probes from the short and long arm of chromosome 18, showed that the structure of the dicentric chromosome 18 was 18pter-->18q23::18q11-->18pter. DNA polymorphisms for chromosome 18 showed that the abnormalities of chromosome 18 were paternal in origin. Combining all results, we could link the trisomy 18p and monosomy 18p to a common origin via a complex series of events in an early mitosis. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/10797432/Mosaic_rearrangement_of_chromosome_18:_characterization_by_FISH_mapping_and_DNA_studies_shows_trisomy_18p_and_monosomy_18p_both_of_paternal_origin_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2000&volume=92&issue=2&spage=101 DB - PRIME DP - Unbound Medicine ER -