Delineating the association between isodicentric chromosome Y and infertility A retrospective study

Exploring the association between male infertility and idic (Yq) chromosome using cytogenetic techniques on blood and semen germ cells could help in genetic counseling and choosing the proper reproduction technique.

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Authors

Hamid Kalantari, M.Sc., Saba Asia, B.Sc., Mehdi Totonchi, M.Sc., Hamed Vazirinasab, M.Sc., Zahra Mansouri, M.Sc., Shabnam Zari Moradi, M.Sc., Kaveh Haratian, Ph.D., Hamid Gourabi, Ph.D., Anahita Mohseni Meybodi, Ph.D.

Volume 101, Issue 4, Pages 1091-1096

Abstract

Objective:

To report on 14 infertile patients who had a de novo form of the same isodicentric (idic)(Yq) karyotype with variable degrees of mosaicism.

Design:

Retrospective study and review of the literature.

Setting:

Medical genetics laboratory in a research institute for reproductive biomedicine.

Patient(s):

Fourteen infertile patients, including 13 male patients and 1 female patient who had infertility with the same idic(Y) karyotype.

Intervention(s):

Conventional cytogenetic methods, fluorescence in situ hybridization (FISH) on seminal germ cells and blood, and polymerase chain reaction (PCR)-based molecular approaches.

Main Outcome Measure(s):

Karyotype, FISH, and PCR results.

Result(s):

Cytogenetic results revealed abnormal Y chromosome: 45,X/46,X,idic(Y)(q11.22). The FISH technique on blood lymphocytes confirmed a rearranged Y chromosome, with two centromeres and two SRY signals, and marker chromosome with various levels of mosaicism. Moreover, aneuploidy of sex chromosomes was also detected in haploid seminal germ cells. Multiplex PCR analysis of blood samples demonstrated microdeletion in AZFb and AZFc loci.

Conclusion(s):

Because of the resemblance between inversion of chromosome Y and idics(Y), use of confirmatory techniques (e.g., FISH or PCR-based methods) could help prevent medical errors in healthcare systems and precisely delineate chromosomal aberrations in infertile patients when clinical data fail to clarify the cause of infertility.

Read the full text at: http://www.fertstert.org/article/S0015-0282(13)03484-5/fulltext


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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders. The journal publishes juried original scientific articles in clinical and laboratory research relevant to reproductive endocrinology, urology, andrology, physiology, immunology, genetics, contraception, and menopause. Fertility and Sterility® encourages and supports meaningful basic and clinical research, and facilitates and promotes excellence in professional education, in the field of reproductive medicine.

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