We report on a 2.5-month-old boy with hypertelorism, hypertrichosis, anteverted nostrils, malformed ears, thin lips, downturned corners of the mouth, micrognathia, short neck, cryptorchidism, and bilateral simian creases without limb anomalies. Cytogenetic studies showed a duplication 3q----qter 46,XY,der(6),t(3;6)(q21;p25)pat. The absence of limb anomalies is noteworthy; all 12 previously reported patients with the same duplication had limb anomalies. The uniqueness of this report provokes speculations regarding limb morphogenesis in embryos with chromosome anomalies. The concepts of chronogenetics, heterochrony, and developmental field defects appear relevant to yet another set of patients with chromosome anomalies.

Background: Recurrent pregnancy loss (RPL) is a major reproductive health issue, affecting 2%–5% of couples. Genetic factors, mainly chromosomal abnormalities, are the most common cause of early miscarriage accounting for 50%–60% of first trimester abortion. Aim: To estimate the prevalence and nature of chromosomal anomalies in couples with recurrent miscarriage. Patients and Methods: This study included 224 couples with a history of 2 or more abortions. Both partners were karyotyped as part of the primary investigation. Cytogenetic analysis was carried out using the standard method. Results: A total of 224 couples with a history of two or more recurrent abortions were enrolled in this study. Chromosomal abnormalities were detected in 26 couples (11.6%) and 28 individuals (6.25%). We found a structural chromosome abnormality in 17/28 patients (60.7%); 12 patients had a reciprocal translocation (42.9%) including one patient with an additional inversion of the Y chromosome, 4 (14.3%) had a Robertsonian translocation, and one patient (3.6%) carried a paracentric inversion of chromosome 2. Numerical chromosome aberrations were detected in 5 patients; three patients (10.7%) with sex chromosome abnormalities and two (7.1%) with a marker chromosome. Six patients (21.4%) showed a heteromorphic variant involving chromosome 9. Conclusion: The prevalence of chromosomal abnormalities in couples with RPL is within the range reported worldwide. Cytogenetic analysis should become an integral part of the investigations of couples with at least two pregnancy losses of undetermined etiology.

Purpose The aim of this study is to evaluate the effect of abnormal semen morphology on the frequency of sex chromosomal abnormalities in embryos obtained by ICSI, which represents the first to be studied in Egyptian population. Methods Forty-two couples suffering from male infertility due to teratozoospermia were divided into two groups: patients with severe and moderate teratozoospermia (group A and B, respectively). All involved couples were subjected to careful history taking and had a normal clinical examination and karyotype. Females were subjected to hormonal assays, pelvic ultrasound, hysterosalpingography and yielded normal results, while male partners were subjected to computerized semen analysis. Preimplantation genetic diagnosis was performed for all suitably developed embryos including embryo biopsy, fixation of biopsied cells and fluorescent in situ hybridization (FISH) analysis. Results Couples included in the two groups were found to be homogenous in terms of age of both partners and duration of infertility. Interpretation of FISH results was performed by evaluation of embryos’ chromosomal constitution as regards abnormalities in chromosomes X, Y and 18. Twenty-seven embryos (48.2%) were found chromosomally abnormal in group A, while only 14 embryos (25.0%) were found chromosomally abnormal in group B. Aneuploidies involved only sex chromosomes were tripled in group A embryos when compared to their frequency in group B embryos (26.8% and 8.3%, respectively) with statistically significant difference between the two groups (p=0.002). Monosomies were the most common type of aneuploidy and were significantly higher in group A (14.3%) when compared to group B (3.6%) (p=0.047). Embryos with mosaic abnormalities were more common in group A (12.5%) when compared to group B (3.6%), however not statistically significantly different (p= 0.162). A significant difference between the two studied groups as regards the total number of potentially viable chromosomal abnormalities detected and the potentially viable sex chromosomal aneuploidies detected (p<0.001 and p=0.002), respectively. Conclusion The cases with severe teratozoospermia undergoing ICSI treatment can display a higher rate of sex chromosome aneuploidies in their embryos (threefold) than cases with moderate teratozoospermia.

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