Duplication of the short arm of chromosome 9. Analysis of five cases

• DOI: 10.1007/bf00291321
• Publication Date: 2004-10-05T10:26:31Z
• Authors: C. Cuoco; G. Gimelli; F. Pasquali; L. Poloni; O. Zuffardi; P. Alicata; G. Battaglino; F. Bernardi; R. Cerone; M. Cotellessa; A. Ghidont; S. Motta
• Keywords: Isochromosome; Tetrasomy; Trisomy; Dicentric chromosome; Long arm; Human genetics

Five females with duplication of the short arm of one chromosome 9 are reported, one tetrasomic and four trisomic for 9p. The tetrasomy is due to an isochromosome 9p while the trisomies are due in one case to an intrachromosomal duplication present in lymphocytes but not in fibroblasts, two are secondary to translocations with chromosomes 22 and 13 respectively, and one is a mosaic with a cell line with an additional deleted chromosome 9 present in lymphocytes and fibroblasts. This analysis indicates that duplications 9p may result in impairment of ovarian function. The phenotypic differences between trisomy and tetrasomy 9p are discussed.