OBJECTIVE: To study a transmissible partial AZFb and -c microdeletion. DESIGN: Case report. SETTING: Service of Reproductive Medicine, Molecular Biology, CHU Lyon, France. PATIENT(S): A case of oligoasthenospermia with partial spermatogenic failure. Screening for Yq microdeletions revealed the absence of sY143, suggesting an AZFb microdeletion. INTERVENTION(S): Sequence-tagged site mapping indicated that the deletion encompassed a portion of the AZFb and -c region. Genomic DNA from the patient's father gave the same pattern. During the course of these investigations, a pregnancy occurred. On the 46,XY amniocyte and cord blood DNA, the same microdeletion was found. MAIN OUTCOME MEASURE(S): Study of the fine structure of the Y-chromosome and the gene copy number. RESULT(S): The three males of this family have a rearrangement including a deletion encompassing r3 and r4, the palindrome P3, and its boundary regions: u3 and u1 in its distal part. This induced a reduction in DAZ and RBMY1 copy number and complete loss of PRY. CONCLUSION(S): PRY is not indispensable to complete spermatogenesis; and with two RBMY1 and two DAZ copies, complete spermatogenesis can be conserved.
OBJECTIVE: To study a transmissible partial AZFb and -c microdeletion. DESIGN: Case report. SETTING: Service of Reproductive Medicine, Molecular Biology, CHU Lyon, France. PATIENT(S): A case of oligoasthenospermia with partial spermatogenic failure. Screening for Yq microdeletions revealed the absence of sY143, suggesting an AZFb microdeletion. INTERVENTION(S): Sequence-tagged site mapping indicated that the deletion encompassed a portion of the AZFb and -c region. Genomic DNA from the patient's father gave the same pattern. During the course of these investigations, a pregnancy occurred. On the 46,XY amniocyte and cord blood DNA, the same microdeletion was found. MAIN OUTCOME MEASURE(S): Study of the fine structure of the Y-chromosome and the gene copy number. RESULT(S): The three males of this family have a rearrangement including a deletion encompassing r3 and r4, the palindrome P3, and its boundary regions: u3 and u1 in its distal part. This induced a reduction in DAZ and RBMY1 copy number and complete loss of PRY. CONCLUSION(S): PRY is not indispensable to complete spermatogenesis; and with two RBMY1 and two DAZ copies, complete spermatogenesis can be conserved.
Authors: Peter J Stahl; Anna N Mielnik; Christopher E Barbieri; Peter N Schlegel; Darius A Paduch Journal: Asian J Androl Date: 2012-07-23 Impact factor: 3.285
Authors: Ana Paula dos Santos; Juliana Gabriel Ribeiro Andrade; Cristiane Santos Cruz Piveta; Juliana de Paulo; Gil Guerra; Maricilda Palandi de Mello; Andréa Trevas Maciel-Guerra Journal: BMC Med Genet Date: 2013-11-05 Impact factor: 2.103