Cytogenetic, FISH, and molecular results of 20 cases with de novo tandem duplications of 18 diVerent autosomal chromosome segments are reported. There were 12 cases with direct duplications, three cases with inverted duplications, and five in whom determination of direction was not possible. In seven cases a rearrangement between non-sister chromatids (N-SCR) was found, whereas in the remaining 13 cases sister chromatids (SCR) were involved. Paternal and maternal origin (7:7) was found almost equally in cases with SCR (3:4) and N-SCR (4:3). In the cases with proven inversion, there was maternal and paternal origin in one case each. Twenty three out of 43 cytogenetically determined breakpoints correlated with common or rare fragile sites. In five cases, including all those with proven inverse orientation, all breakpoints corresponded to common or rare fragile sites. In at least two cases, one with an interstitial duplication (dup(19)(q11q13)) and one with a terminal duplication (dup(8) (p10p23)), concomitant deletions (del(8) (p23p23.3) and del(19)(q13q13)) were found. (J Med Genet 2000;37:281-286)

SummaryThe chromosomal arrangement frequencies of 27 populations of Drosophila subobscura from the western Mediterranean region have been compared. To evaluate the relationships between these populations, factorial analysis of correspondences (B ENZECRI , 1973) and a distance proposed by P REVOSTI (1974 a)

Our results support the new ESPGHAN 2012 guidelines for diagnosis of CD can be safely used without the risk of overdiagnosis. A prospective multicentre study is needed to confirm our results.

No abstract

No abstract