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Ring Y chromosome: cytogenetic and molecular characterization
Author(s) -
Wegner RolfDieter,
Scherer Gerd,
Pohlschmidt Marita,
L'Allemand Dagmar,
Gal Andreas
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03142.x
Subject(s) - ring chromosome , karyotype , genetics , biology , chromosome , x chromosome , cytogenetics , ring (chemistry) , y chromosome , heterochromatin , turner syndrome , gene , chemistry , endocrinology , organic chemistry
A female patient with Turner syndrome and the karyotype mos45,X/46,X,r(Y)/46,XY is described. Physical mapping of the ring chromosome by Y‐specific single‐copy and moderately repeated DNA sequences as molecular probes showed that, in addition to the heterochromatic part of Yq, a considerable portion of the Yp has also been lost in the course of the rearrangement. Thus, molecular findings provide independent support that this structurally abnormal sex chromosome is a ring Y and agree with the generally accepted model of ring formation requiring breaks in both chromosome arms. Clinical consequences of Y chromosome mosaicism in patients with Turner syndrome are discussed.