Molecular and cytogenetic characterization of 9p– abnormalities
Article first published online: 7 JUN 2005
Copyright © 1993 Wiley-Liss, Inc., A Wiley Company
American Journal of Medical Genetics
Volume 46, Issue 3, pages 288–292, 15 May 1993
How to Cite
Teebi, A. S., Gibson, L., McGrath, J., Meyn, M. S., Breg, W. R. and Yang-Feng, T. L. (1993), Molecular and cytogenetic characterization of 9p– abnormalities. Am. J. Med. Genet., 46: 288–292. doi: 10.1002/ajmg.1320460310
- Issue published online: 7 JUN 2005
- Article first published online: 7 JUN 2005
- Manuscript Revised: 25 NOV 1992
- Manuscript Received: 7 AUG 1992
- chromosomes 9p and 7p;
- high-resolution cytogenetics;
We report on 2 girls with terminal deletion of the short arm of chromosome 9 with concurrent duplication unrecognizable by routine chromosome studies. The phenotype of the patients was not specifically suggestive of the 9p– syndrome in the absence of trigonocephaly and long philtrum as cardinal manifestations. In addition to psychomotor retardation, their manifestations were mild and include upward slant of palpebral fissures and dolichomesophalangy which are characteristic of del(9p). Chromosome abnormalities were de novo in both cases.
The two rearranged chromosomes 9 exhibit similar G-banding patterns and suggested the possible duplication of distal 7p. Fluorescence in situ hybridization (FISH) with a chromosome-7 specific library probe indeed identified that one derivatie chromosome 9 was the result of a translocation between chromosomes 7 and 9 [der(9)t(7;9)(p15.3;p24)] but failed to detect a signal on the other derivative 9. In the second case, the concurrent abnormality was an inverted duplication of proximal 9p and deletion of distal 9p [invdup(9)(p13p22::p22qter)] confirmed by FISH using a chromosome 9 specific librarayprobe. FISH clearly identified the origin of these 2 abnormal choromosomes 9 and provided crucial information for clinical evaluation We emphasize the importance of utilizing updated cytogenetic and molecular techniques in the precise delineation of subtle or complex abnormalities where there are no useful phenotypic clues. © 1993 Wiley-Liss, Inc.