Detection of Y-chromosome sequences in patients with X-chromosome abnormalities.
The polymerase chain reaction was used to test 18 adults and eight fetuses with numerical or structural X-chromosome abnormalities for the presence of nine Y-specific loci. Y-chromosomal DNA was detectable in one adult patient with X-chromosome mosaicism. This study and previous reports provide evidence to support further screening of patients with X-chromosome abnormalities for the presence of Y-chromosomal DNA sequences. Long-term follow-up of patients with Y-chromosomal sequences is required to determine the risk of gonadal neoplasms and other abnormal phenotypes.
Kuo
P L
PL
Department of Obstetrics & Gynecology, National Cheng-Kung University Medical Center, Tainan, Taiwan.
Wu
R C
RC
Lin
S J
SJ
Tzeng
C C
CC
Liu
H S
HS
Huang
K E
KE
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D005260:Female; D005315:Fetal Diseases / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009030:Mosaicism / Q000175:diagnosis* / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D012091:Repetitive Sequences, Nucleic Acid; D012680:Sensitivity and Specificity; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014424:Turner Syndrome / Q000235:genetics; D014960:X Chromosome / Q000235:genetics*; D014998:Y Chromosome / Q000737:chemistry*