De novo balanced robertsonian translocation rob[22;22][q10;q10] in a woman with recurrent pregnancy loss: a rare case

Background: Recurrent pregnancy loss [RPL], one of the most common complications of pregnancy, is responsible for significant emotional distress to the couple desiring to conceive. In almost 50% of the cases, the etiology remains unknown. The frequency of chromosomal structural rearrangements associated with a history of RPL in couples varies between 2% to 8%. Robertsonian translocations [ROBs] have an estimated incidence rate of 1/1000 births, making this type of rearrangement the most common structural chromosomal abnormalities seen in the general population. According to the literature, there are few RPL cases with rob [22; 22]

Case Presentation: This case is a Syrian female offered to the Orient Hospital [Damascus, Syria], having RPL in the first trimester, no fetal malformations, and/or no neonatal death. She had a balanced chromosomal translocation involved the both short arms of chromosome 22. Banding cytogenetics, refined by array-proven multicolor banding [aMCB] revealed a rob [22; 22][q10;q10]. Her husband had a normal karyotype. Interestingly, chromosomal analysis was performed for her other family members and it revealed normal karyotype for all people, which indicates that translocation is of de novo origin. However, the couple did not have any living offspring after seven years of marriage

Conclusion: The present case was a case of RPL occurring due to rob [22;22]. However, the rob[22;22][q10;10] is the cause of recurrent abortions. Couples with the history of RPL should be suggested to do cytogenetic analysis in order to estimate whether they have chromosomal rearrangement. This diagnostic approach is of great significance to figure out what causes RPL

[Y-Chromosome microdeletion in azoospermic patients and its relationship with spermatogenesis]

Microdeletions of the Y-chromosome removing the azoospermia factor [AZF] region are the most frequent molecular genetic cause of spermatogenic failure. Although there is still no definitive consensus on the relationship between the type of microdeletion and the resulting sperm defect, microdeletions in AZFa lead mostly to Sertoli cell only syndrome, mutations in AZFb provoke interruption in meiosis I and mutations in AZFc result in hypospermatogenesis. Our objective is to evaluate the frequency and types of Y-chromosome microdeletions in patients with idiopathic nonobstructive azoospermia [NOA] and its relationship with successful sperm retrieval. cross sectional study. 393 males with NOA. from February 2009 to February 2012. Department of anatomy, histology and embryology - Damascus University, and Orient Hospital. Semen analysis, karyotype, Y-chromosome microdeletion testing by polymerase chain reaction [PCR] and testicular sperm extraction [TESE]. The frequency of Y-chromosome microdeletions was 14% [55/393], and microdeletion in the AZFb region were the most prevalent 49.1% [27/55], followed by the AZFc, ADFd and AZFa. Spermatozoa were retrieved in 11 cases [57.9%] of microdeletions in AZFc region, and were absent in all other microdeletions. Therefore, the presence of an AZFc microdeletion was associated with increased likelihood of sperm retrieval. The high prevalence of Y-chromosome microdeletions [14%] in our study strongly suggests the need for routine molecular genetic testing and counseling prior to assisted reproduction in idiopathic NOA, interestingly the successful sperm retrieval was only found in microdeletions located in sub-region of azoospermia factor [AZFc]