A girl with an end-to-end fusion of two X's

Abstract

An abnormal large chromosome was seen in the karyotype of a 3-year-old girl with features of Turner's syndrome: i.e., short stature, cubitus valgus, coarctation of aorta. With the banding technics this abnormal chromosome appears to be the result of a fusion of two X chromosomes, short arm-to-short arm. This chromosome has two regions with C-heterochromatin and is late replicating.

Correspondence: Gonadal dysgenesis with 46,X,Xt(qter->p221:: p223->qter) karyotype

“…Five other reports which I know of were also not included in these tables. [2][3][4][5][6] This illustrates a commonly encountered problem in correlating cytogenetic case reports. As not all laboratories see all journals, authors should state that their comparisons with similar cases are based on those reports "known to us" rather than to state that they are based on "all available .…”

On telomere replication and fusion in eukaryotes: apropos of a case of 45, X/46, X, ter rea(X;X)(p22.3;p22.3)

“…1976;Becroft et al, 1977;Mattei el al.. 1977;Peña et al, 1977;Valenta et al, 1977;Biemont el al., 1978;Davidenkova et al, 1978;Schwanitz et al. 1979;Smith et al, 1979;Stoll et al, 1979;Ferraro et al, 1980;Maraschio et al, 1980;Pescia et al, 1980;Sarto and Thcrman, 1980;Mutchinick et al, 1981;Otto et al, 1981;Yu et al, 1982) and the 6 long arm (Therman et ah, 1974;Sinha et al" 1976;Dewald et al" 1978;Mirzayants and Baranovskaya, 1978;Tegenkamp et al, 1978;Robertson et al" 1982) are known. Although the terminals of the long and short arms might also be able to join, no pseudodicen tric chromosomes arising from terminal rearrange ment between the long and short arms of homologues have been described either for the X chromosome or for autosomes (see Laurent el al., 1978;Berg et al, 1980;Turlcau et al, 1980).…”