Detailed analysis of isodicentric Y in a case with azoospermia and 45,X/46,X,Idic(Y) mosaicism

Jaehyeon Lee; Jong Kwan Park; Dal Sik Kim; Hye Soo Lee; Sam Im Choi; Yong Gon Cho

Detailed analysis of isodicentric Y in a case with azoospermia and 45,X/46,X,Idic(Y) mosaicism

Jaehyeon Lee
, Jong Kwan Park
, Dal Sik Kim
, Hye Soo Lee
, Sam Im Choi
, Yong Gon Cho^*

^*Corresponding author for this work

Department of Medicine

Jeonbuk National University

Research output: Contribution to journal › Journal article › peer-review

6 Scopus citations

Abstract

Isodicentric chromosomes are the most commonly reported aberrations of the human Y chromosome. We characterized the isodicentric Y chromosome from an azoospermic male by fluorescence in situ hybridization (FISH) and PCR. The patient was a 33-year-old man who visited our hospital for evaluation of infertility. He expressed male external genitalia and showed normal testosterone levels. However, severe varicocele on both sides and hydrocele of the right side were found upon ultrasonography of the scrotum, and no sperm were found on semen analysis. The patient showed 46,X,idic(Y)(q11.22)[58]/45,X[12] karyotype. FISH demonstrated the presence of two centromeres and two SRY regions (74.0% of cells counted). PCR showed the breakpoint between SY161 and SY121 in Yq11.221-q11.222.

Original language	English
Pages (from-to)	206-208
Number of pages	3
Journal	Annals of Clinical and Laboratory Science
Volume	45
Issue number	2
State	Published - 2015

Quacquarelli Symonds(QS) Subject Topics

Medicine
Biological Sciences

Cite this

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title = "Detailed analysis of isodicentric Y in a case with azoospermia and 45,X/46,X,Idic(Y) mosaicism",

abstract = "Isodicentric chromosomes are the most commonly reported aberrations of the human Y chromosome. We characterized the isodicentric Y chromosome from an azoospermic male by fluorescence in situ hybridization (FISH) and PCR. The patient was a 33-year-old man who visited our hospital for evaluation of infertility. He expressed male external genitalia and showed normal testosterone levels. However, severe varicocele on both sides and hydrocele of the right side were found upon ultrasonography of the scrotum, and no sperm were found on semen analysis. The patient showed 46,X,idic(Y)(q11.22)[58]/45,X[12] karyotype. FISH demonstrated the presence of two centromeres and two SRY regions (74.0\% of cells counted). PCR showed the breakpoint between SY161 and SY121 in Yq11.221-q11.222.",

author = "Jaehyeon Lee and Park, \{Jong Kwan\} and Kim, \{Dal Sik\} and Lee, \{Hye Soo\} and Choi, \{Sam Im\} and Cho, \{Yong Gon\}",

note = "Publisher Copyright: {\textcopyright} 2015 by the Association of Clinical Scientists, Inc.",

year = "2015",

language = "English",

volume = "45",

pages = "206--208",

journal = "Annals of Clinical and Laboratory Science",

issn = "0091-7370",

number = "2",

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TY - JOUR

T1 - Detailed analysis of isodicentric Y in a case with azoospermia and 45,X/46,X,Idic(Y) mosaicism

AU - Lee, Jaehyeon

AU - Park, Jong Kwan

AU - Kim, Dal Sik

AU - Lee, Hye Soo

AU - Choi, Sam Im

AU - Cho, Yong Gon

PY - 2015

Y1 - 2015

N2 - Isodicentric chromosomes are the most commonly reported aberrations of the human Y chromosome. We characterized the isodicentric Y chromosome from an azoospermic male by fluorescence in situ hybridization (FISH) and PCR. The patient was a 33-year-old man who visited our hospital for evaluation of infertility. He expressed male external genitalia and showed normal testosterone levels. However, severe varicocele on both sides and hydrocele of the right side were found upon ultrasonography of the scrotum, and no sperm were found on semen analysis. The patient showed 46,X,idic(Y)(q11.22)[58]/45,X[12] karyotype. FISH demonstrated the presence of two centromeres and two SRY regions (74.0% of cells counted). PCR showed the breakpoint between SY161 and SY121 in Yq11.221-q11.222.

AB - Isodicentric chromosomes are the most commonly reported aberrations of the human Y chromosome. We characterized the isodicentric Y chromosome from an azoospermic male by fluorescence in situ hybridization (FISH) and PCR. The patient was a 33-year-old man who visited our hospital for evaluation of infertility. He expressed male external genitalia and showed normal testosterone levels. However, severe varicocele on both sides and hydrocele of the right side were found upon ultrasonography of the scrotum, and no sperm were found on semen analysis. The patient showed 46,X,idic(Y)(q11.22)[58]/45,X[12] karyotype. FISH demonstrated the presence of two centromeres and two SRY regions (74.0% of cells counted). PCR showed the breakpoint between SY161 and SY121 in Yq11.221-q11.222.

UR - https://www.scopus.com/pages/publications/84929337042

M3 - Journal article

C2 - 25887877

AN - SCOPUS:84929337042

SN - 0091-7370

VL - 45

SP - 206

EP - 208

JO - Annals of Clinical and Laboratory Science

JF - Annals of Clinical and Laboratory Science

IS - 2

ER -

Detailed analysis of isodicentric Y in a case with azoospermia and 45,X/46,X,Idic(Y) mosaicism

Abstract

Quacquarelli Symonds(QS) Subject Topics

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