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KMID : 1216720120040010049
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Korean Journal of Gynecologic Endocrinology
2012 Volume.4 No. 1 p.49 ~ p.55
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Isodicentric Y Chromosome Mosaic with Normal Y Chromosome in an Infertile Male Patient: A Case Report and Review of the Literatures
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Kim Ji-Won
Park Chong-Won
Park Sang-Hee
Yoon Tae-Ki
Cha Dong-Hyun
Shim Sung-Han
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Abstract
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Among the structural abnormalities affecting Y chromosome, isodicentric chromosomes are the most common. The
phenotype range from infertile male to Turner-like female through mixed gonadal dysgenesis. The case of a
33-year-old Korean male in whom seminal analysis showed complete azoospermia, is presented. The patient’s physical
features at the time of examination included short stature and microphallus. He had three cell lines. One cell
line did not contain Y, one contains a normal Y, another line contains only idic(Yp). The karyotype was determined
to be 45,X[79]/46,X,idic(Y)(p11)[68]/47,XY,+idic(Y)(p11)[3]. This is demonstrated by fluorescence in situ hybridization
(FISH). All tested loci of azoospermia factor (AZF) and azoospermia gene (DAZ) were found positive. We
present detailed molecular-cytogenetic characterization of a patient with mosaicism involving normal Y chromosome
and idic(Y) and reviewed the literatures.
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KEYWORD
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Infertile male, Isodicentric Y chromosome, Mosaicism, Normal Y chromosome
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