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[A cytogenetic and molecular genetic study on microdeletion of AZF region on Y chromosome].

Xiao-su Xiao, Xiaoyi Liu, Yongqiang Wang, Yin-han Zhang, Yuan-hui Yang, Libing Liao, Zhiming Cai

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Abstract

OBJECTIVE: To study the morphology of Y chromosome and microdeletion of the correlated specific azoospermia factor(AZF) region on Y chromosome in cases of azoospermia and to identify the genetic diagnosis made for male infertility patients. METHODS: Peripheral blood samples were taken from two patients with azoospermia, and then were examined by use of G banding, C banding cytogenetic analysis and multiplex polymerase chain reaction (PCR) microdeletion analysis. RESULTS: The karyotypes of the two cases were 45, X, -Y, -22, +der(Y)t(Y;22)(q11.2;q11.2) and 46, XY, del(Y)(q11.2) respectively. In 12 sequence-tagged sites(STS) of AZFa, AZFb, AZFd, AZFc, only one was detected in the first case and two were detected in the other case. CONCLUSION: The cytogenetic analysis and the detection of AZF microdeletion on Y chromosome are essential to the final genetic diagnosis to be made for male infertility patients.

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OBJECTIVE: To study the morphology of Y chromosome and microdeletion of the correlated specific azoospermia factor(AZF) region on Y chromosome in cases of azoospermia and to identify the genetic diagnosis made for male infertility patients. METHODS: Peripheral blood samples were taken from two patients with azoospermia, and then were examined by use of G banding, C banding cytogenetic analysis and multiplex polymerase chain reaction (PCR) microdeletion analysis. RESULTS: The karyotypes of the two cases were 45, X, -Y, -22, +der(Y)t(Y;22)(q11.2;q11.2) and 46, XY, del(Y)(q11.2) respectively. In 12 sequence-tagged sites(STS) of AZFa, AZFb, AZFd, AZFc, only one was detected in the first case and two were detected in the other case. CONCLUSION: The cytogenetic analysis and the detection of AZF microdeletion on Y chromosome are essential to the final genetic diagnosis to be made for male infertility patients.

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Available abstract

OBJECTIVE: To study the morphology of Y chromosome and microdeletion of the correlated specific azoospermia factor(AZF) region on Y chromosome in cases of azoospermia and to identify the genetic diagnosis made for male infertility patients. METHODS: Peripheral blood samples were taken from two patients with azoospermia, and then were examined by use of G banding, C banding cytogenetic analysis and multiplex polymerase chain reaction (PCR) microdeletion analysis. RESULTS: The karyotypes of the two cases were 45, X, -Y, -22, +der(Y)t(Y;22)(q11.2;q11.2) and 46, XY, del(Y)(q11.2) respectively. In 12 sequence-tagged sites(STS) of AZFa, AZFb, AZFd, AZFc, only one was detected in the first case and two were detected in the other case. CONCLUSION: The cytogenetic analysis and the detection of AZF microdeletion on Y chromosome are essential to the final genetic diagnosis to be made for male infertility patients.

Key concepts: Azoospermia factor, Y chromosome microdeletion, Y chromosome, Karyotype, Male infertility, Genetics, Biology, Multiplex polymerase chain reaction

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