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

Abstract

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.

Case of partial trisomy 9p and partial trisomy 14q resulting from a maternal translocation: Overlapping manifestations of characteristic phenotypes

“…The rare combination of two chromosome duplications which are each associated with characteristic manifestations offers a unique opportunity to observe the overlapping phenotypic effects of two distinct chromosome abnormalities. Cuoco et al, 1982;Motigi et al, 1985;Wajntal et al, 1985;Young et al, 1982. b Allerdice et al, 1971;Fawcett et al, 1975;Fryns et al, 1974;Kovacs and Mihai, 1979;LoCurto et al, 1976;Muldal et al, 1973;Raoul et al, 1976;Reiss et al, 1972;Short et al, 1972;Simpson and Zellweger, 1977;Smith et al, 1980. …”

De novo inverted duplication 9p21pter involving telomeric repeated sequences

“…Almost 150 patients with partial or complete 9p trisomy have been reported, but most patients had an unbalanced translocation involving another chromosome [Young et al, 1982;Wilson et al, 1985]. Ten published cases involved a de novo duplication [Chiyo et al, 1976;Baccichetti et al, 1979;Fryns et al, 1979;Zadeh et al, 1981;Cuoco et al, 1982;Motegi et al, 1985;Mattina et al, 1987;Bussani Mastellone et al, 1991;Phelan et al, 1993;Fujimoto et al, 1998], and one case was a direct inherited duplication [Haddad et al, 1996] (Table I). Partial 9p duplication is a rare event, and breakpoints at 9pter including the telomeric repeated sequences as in our case were not reported.…”

Anomalie oculaire inhabituelle de la trisomie 9p: dépigmentation rétinienne

“…Secondairement, d'autres anomalies rela tivement fréquentes sont décrites: épican-thus [3,8,13,15], strabisme [1,3,12,14] et correctopie. Enfin, certains auteurs signa lent plus rarement un ptosis unilatéral [5], un blépharophimosis [8], des papilles pâles [6], l'ectopie du cristallin constatée chez deux frères atteints [7], et une forte myopie congénitale [7,9,10], L'observation que nous rapportons est insolite par l'existence d'une dépigmenta tion rétinienne homogène à bord net, ano malie du fond d'oeil jusqu'ici jamais signa lée.…”