DE-NOVO DUPLICATION OF 7PTER-]P21.2 AND DELETION OF 9PTER-]P23.5 - CLINICAL AND CYTOGENETIC DIAGNOSIS

Authors
BACK E JUNG C ZEITLER S SCHEMPP W
Citation
E. Back et al., DE-NOVO DUPLICATION OF 7PTER-]P21.2 AND DELETION OF 9PTER-]P23.5 - CLINICAL AND CYTOGENETIC DIAGNOSIS, Clinical genetics, 51(1), 1997, pp. 56-60
Citations number
25
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
51
Issue
1
Year of publication
1997
Pages
56 - 60
Database
ISI
SICI code
0009-9163(1997)51:1<56:DDO7AD>2.0.ZU;2-P
Abstract
We report on a male patient with a de novo derivative chromosome 9. Fr om clinical and conventional cytogenetic data, it was assumed that the derivative chromosome might be caused by a translocation between the short arms of chromosomes 7 and 9: der(9)t(7;9)(p21.2;p23.5). Fluoresc ence in situ hybridization with a chromosome 7-specific and a chromoso me 9-specific paint confirmed this supposition. The phenotype of the p atient described is compared to cases in the literature.