透納氏症之分子遺傳學研究:著重於染色體Y成分存在之角色
Date Issued
1998
Date
1998
Author(s)
侯家瑋
DOI
872314B002173
Abstract
Most patients with Turner syndrome (TS)
have only one normal functioning X
chromosome; the other is either missing,
deleted, or present in the mosaic form.
Conventional cytogenetic studies in 102 TS
patients have showed that 51% have the
karyotype 45,X, whereas the rest have
structural aberrations of the X chromosome
(ie, mosaic/non-mosaic, isoXq, r(X), Xp-,
Xq-, +marker of unknown origin) (17%), or
mosaicism with a second (even a third) cell
line containing a structurally normal X or Y
chromosome (32%). To study the possible
role of cryptic mosaicism in phenotypical
variation of 45,X TS, we avalysed low-level
mosaicism by methods based on the
polymerase chain reaction (PCR) by
HUMURA assay. A further finding was the
detection of a frequency of 16% (9/56)
mosaicism with 46,XX in TS girls who by
cytogenetic analysis were thought to have a
pure 45,X karyotype. No Y component could
be detected in those patients. DNA (PCR)
and FISH (fluorescence in situ, hybridization)
analysis were carried out in 9 cases with
chromosome markers. Five of them showed
positive signal of PYZ3 (Y centromere)
and/or DYZ1 (Yqh). Karyotype- phenotype
study showed relatively higher height and no
cardiovascular disorders in TS patients with
Y component or with mosaic 46,XY/46,XX
cell line. However, a case with 45,X/46,XY
has developed gonadoblastoma after
laparotomy and excision of the residual
gonadal tumors in those TS patients with Y
component.
Subjects
Turner Syndrome
Chromosome Y
Gonadoblastoma
Publisher
臺北市：國立臺灣大學醫學院小兒科
Type
report
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