TY - JOUR
T1 - Nonrandom inactivation of the Y-bearing X chromosome in a 46, XX individual
T2 - Evidence for the etiology of 46, XX true hermaphroditism
AU - Fechner, Patricia Y.
AU - Rosenberg, C.
AU - Stetten, G.
AU - Cargile, C. B.
AU - Pearson, P. L.
AU - Smith, K. D.
AU - Migeon, C. J.
AU - Berkovitz, G. D.
PY - 1994/1/1
Y1 - 1994/1/1
N2 - We previously reported a subject with 46, XX true hermaphroditism who had a 46, X, del(X) karyotype and Y- chromosomal sequences in genomic DNA. We hypothesized that the Y-chromosomal sequences were translocated to the deleted X chromosome and that the incomplete testis determination of this individual was the result of inactivation of the translocated X chromosome. In situ hybridization studies demonstrated that the Y-chromosomal sequences were located on the distal portion of the short arm of the deleted X chromosome. Investigation of the replication of the X chromosome, using a modified R-banding technique and localization of Y-chromosomal sequences by in situ hybridization, showed that the translocated X chromosome was late replicating in all 100 EBV-transformed lymphoblasts that were examined. By- contrast, when cells from a subject with 46, XX maleness were studied, the translocated X chromosome was late replicating in only 21 of 47 cells. As the late-replicating X chromosome is presumed to be the inactive X chromosome, selection of cells in which the Y-bearing X chromosome has been inactivated may play a role in the incomplete testis determination in subjects with “Y-positive” 46, XX true hermaphroditism.
AB - We previously reported a subject with 46, XX true hermaphroditism who had a 46, X, del(X) karyotype and Y- chromosomal sequences in genomic DNA. We hypothesized that the Y-chromosomal sequences were translocated to the deleted X chromosome and that the incomplete testis determination of this individual was the result of inactivation of the translocated X chromosome. In situ hybridization studies demonstrated that the Y-chromosomal sequences were located on the distal portion of the short arm of the deleted X chromosome. Investigation of the replication of the X chromosome, using a modified R-banding technique and localization of Y-chromosomal sequences by in situ hybridization, showed that the translocated X chromosome was late replicating in all 100 EBV-transformed lymphoblasts that were examined. By- contrast, when cells from a subject with 46, XX maleness were studied, the translocated X chromosome was late replicating in only 21 of 47 cells. As the late-replicating X chromosome is presumed to be the inactive X chromosome, selection of cells in which the Y-bearing X chromosome has been inactivated may play a role in the incomplete testis determination in subjects with “Y-positive” 46, XX true hermaphroditism.
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U2 - 10.1159/000133656
DO - 10.1159/000133656
M3 - Article
C2 - 8275702
AN - SCOPUS:0028157477
VL - 66
SP - 22
EP - 261
JO - Cytogenetic and Genome Research
JF - Cytogenetic and Genome Research
SN - 1424-8581
IS - 1
ER -