A presumptive tetrasomy for the short arm of chromosome 9

Tetrasomy 9p caused by idic (9) (pter→q13→pter)

“…In our patient we found absence of astragalus and calcaneous and also of some phalanges of fingers and toes, pseudoarthrosis of clavicle (as also found in the patient reported by Rutten et al [1974]), and bowing of the ulna (as in the patient reported by Balestrazzi et al [ 19831).…”

Three cases of tetrasomy 9p

“…Furthermore, dicentric chromosomes are mitotically unstable, and would therefore be more likely to be lost in culture. Similar cases with low-level mosaicism have been reported in the literature [Rutten et al, 1974;Balestrazzi et al, 1983;Dutley et al, 1998;Stumm et al, 1999]; the possibility of ''culture artifact'' in truly nonmosaic cases may contribute to the variability seen in cases reported to be mosaic.…”

“…Reports of tetrasomy 9p in the literature can be grouped into three types based on the nature of the isochromosome. There have been 12 cases [Rutten et al, 1974;Orye et al, 1975;Moedjono et al, 1980;Cuoco et al, 1982;Garcia-Cruz et al, 1982;McDowall et al, 1989;Schaefer et al, 1991;Van Hove et al, 1994;Leichtman et al, 1996;Dutley et al (2 cases), 1998;Eggermann et al, 1998] reported in which the isochromosome has breakpoint at p10, with no portion of the long arm of chromosome 9 present. In nine cases [Balestrazzi et al, 1983;Cavalcanti et al, 1987;Papenhausen et al, 1990;Melaragno et al, 1992;Grass et al, 1993;Park et al, 1995;Tonk, 1997;Dutley et al, 1998;Stumm et al, 1999], the isochromosome included a small amount of the heterochromatic region of 9q, extending to 9q12 or 9q13.…”

Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: cytogenetic and molecular-cytogenetic studies

“…Phenotypic variability may be more attributable to variable degrees of mosaicism [5,24]. As a mechanism for the formation of partial tetrasomy 9, Rutten et al [23] proposed a disturbance of meiosis I with rearrangement of two of the four chromatids resulting in an isochromosome. Another mechanism suggested by Rutten et al [23] is a selective endo-reduplication involving the short arm and the centromere during meiosis I or postzygotic mitosis.…”

“…A total of 150 ng labelled test-and reference-DNA, 12.5 lg unlabelled Cot1-DNA (Gibco/BRL) and 10 lg salmon sperm DNA were ethanol-precipitated and resolved in 14 ll 50% deionised formamid/10% dextransulfat in 2´SSC. Hybridisation and posthybridisation washes were performed as previously [6,7,9,14,18,20,23] b [3,5,8,10,11,17,21,22,26] c [1,2,4,19,25,28] described [13]. The metaphase spreads were harvested from male lymphocytes.…”