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.
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Authors | G Oner, A Jauch, T Eggermann, R Hardwick, S Kirsch, K Schiebel, G Rappold, L Robson, A Smith |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 92
Issue 2
Pg. 101-6
(May 15 2000)
ISSN: 0148-7299 [Print] United States |
PMID | 10797432
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright 2000 Wiley-Liss, Inc. |
Chemical References |
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Topics |
- Abnormalities, Multiple
(genetics)
- Adult
- Child
- Chromosome Aberrations
- Chromosomes, Human, Pair 14
(genetics)
- Chromosomes, Human, Pair 18
(genetics)
- DNA
(genetics)
- Deafness
- Dermatitis, Atopic
- Family Health
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Male
- Monosomy
- Mosaicism
- Speech Disorders
- Translocation, Genetic
- Trisomy
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