TY - JOUR
T1 - Translocation of the nucleolus organizer region to the human X chromosome
AU - Stetten, G.
AU - Sroka, B.
AU - Schmidt, M.
AU - Axelman, J.
AU - Migeon, B. R.
PY - 1986
Y1 - 1986
N2 - We report the unique finding of a satellited X chromosome in a woman with Turner syndrome and a mosaic karyotype 45,X/46,X,mar(X)(sat,QFQ55),var(21)(sat,QFQ55). In PHA-stimulated lymphocytes and in lymphoblast culture, the satellited X chromosome was consistently late replicating. The translocated nucleolus organizer region (NOR) genes in the stalk of the satellite, however, remained transcriptionally active, and an unusual, late-replicating band was seen at the distal end of Xp. Analysis of fibroblast clones containing the satellited X chromosome suggests that the mar(X) is relatively stable.
AB - We report the unique finding of a satellited X chromosome in a woman with Turner syndrome and a mosaic karyotype 45,X/46,X,mar(X)(sat,QFQ55),var(21)(sat,QFQ55). In PHA-stimulated lymphocytes and in lymphoblast culture, the satellited X chromosome was consistently late replicating. The translocated nucleolus organizer region (NOR) genes in the stalk of the satellite, however, remained transcriptionally active, and an unusual, late-replicating band was seen at the distal end of Xp. Analysis of fibroblast clones containing the satellited X chromosome suggests that the mar(X) is relatively stable.
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M3 - Article
C2 - 3752088
AN - SCOPUS:0022505989
SN - 0002-9297
VL - 39
SP - 245
EP - 252
JO - American journal of human genetics
JF - American journal of human genetics
IS - 2
ER -