Pure trisomy 10p involving an isochromosome 10p

Citation
Sa. Berend et al., Pure trisomy 10p involving an isochromosome 10p, CLIN GENET, 55(5), 1999, pp. 367-371
Citations number
26
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
CLINICAL GENETICS
ISSN journal
00099163 → ACNP
Volume
55
Issue
5
Year of publication
1999
Pages
367 - 371
Database
ISI
SICI code
0009-9163(199905)55:5<367:PT1IAI>2.0.ZU;2-X
Abstract
We report a child with trisomy 10p due to a translocation of the long arm o f chromosome 10 to the short arm of chromosome 14 and isochromosome formati on of 10p [46,XX,i(10)(p10),der(14)t(10;1 4)(q10;p10)]. Most reported cases of trisom y 10p involve double segmental imbalance. In contrast, the clinical feature s described in the current case represent pure trisomy 10p and, thus. delin eate the 10p trisomy syndrome phenotype. Mechanisms of the chromosomal rear rangements in this case are suggested.