J Reprod Endocrinol.  2012 Apr;4(1):49-55.

Isodicentric Y Chromosome Mosaic with Normal Y Chromosome in an Infertile Male Patient: A Case Report and Review of the Literatures

Affiliations
  • 1Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea.
  • 2Genetics Laboratory, Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul, Korea. shshim@cha.ac.kr
  • 3Department of Obstetrics and Gynecology, CHA Gangnam Medical Center, CHA University, Seoul, Korea.

Abstract

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.

Keyword

Infertile male; Isodicentric Y chromosome; Mosaicism; Normal Y chromosome

MeSH Terms

Azoospermia
Cell Line
Female
Fluorescence
Gonadal Dysgenesis, Mixed
Humans
In Situ Hybridization
Karyotype
Male
Mosaicism
Phenotype
Y Chromosome
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