Hamid Kalantari1, Saba Asia1, Mehdi Totonchi1, Hamed Vazirinasab1, Zahra Mansouri1, Shabnam Zarei Moradi1, Kaveh Haratian2, Hamid Gourabi1, Anahita Mohseni Meybodi3. 1. Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, The Academic Center for Education, Culture and Research (ACECR), Tehran, Iran. 2. Department of Pathobiology, Faculty of Medicine, Alborz University of Medical Science, Karaj, Iran. 3. Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, The Academic Center for Education, Culture and Research (ACECR), Tehran, Iran. Electronic address: anahitamohseni@gmail.com.
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.
OBJECTIVE: To report on 14 infertilepatients 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 infertilepatients, 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 infertilepatients when clinical data fail to clarify the cause of infertility.
Authors: Ewa Wiland; Alexander N Yatsenko; Archana Kishore; Halina Stanczak; Agata Zdarta; Marcin Ligaj; Marta Olszewska; Jan Karol Wolski; Maciej Kurpisz Journal: Reprod Biomed Online Date: 2015-05-07 Impact factor: 3.828