The aim of this study is to evaluate the frequency and nature of chromosomal abnormalities in Moroccan couples with recurrent spontaneous miscarriage (RSM). In addition, the data were compared with those reported elsewhere in order to give a global estimation of chromosomal abnormalities frequencies. Methods The study was performed for all couples with RSM who were referred to the cytogenetic department, Pasteur Institute of Morocco, from different hospitals in Morocco between 1996 and 2016. Cytogenetic analysis was performed according to the standard method. Results Among 627 couples with RSM, the chromosomal abnormalities were identified in 11.00% of couples, with chromosomal inversions in 4.30%, reciprocal translocations in 2.71%, Robertsonian translocations in 1.43%, and deletion, isochromosome, and insertion in 0.15% each. The insertion identified [46,XX,ins(6)(p24q21q27)] is new, and is the fourth reported in association with RSM. The mosaic karyotypes were observed in 0.64%, polymorphic variants were identified in 1.27%, and numerical aneuploidy was observed in 0.15%. In regrouping our results with those in 27 other studies already published in 21 different countries, we obtained the frequency of chromosomal abnormalities in couple with RSM to be 5.16% (991/19197 couples). The reciprocal translocation was the most frequent with 2.50%, followed by Robertsonian translocation 0.83% and inversions 0.77%. The other types of chromosomal abnormalities were present with 0.98% in the world. Conclusion This data showed that the frequency of chromosomal abnormalities in Moroccan couples with RSM is 11.00%, and in regrouping our results with other studies, the frequency changes to 5.16%.

The multidrug resistance gene (MDR1) plays an important role in the transport of a wide range of drugs and elimination of xenobiotics from the body. Identification of polymorphisms and haplotypes in the MDR1 gene might not only help understand pharmacokinetics and pharmacodynamics of drugs, but also can help in the prediction of drug responses, toxicity, and side effects, especially, in the era of personalized medicine. We have analyzed the genotypic and haplotypic frequencies of the three most common single-nucleotide polymorphisms in the MDR1 gene in a sample of 100 unrelated healthy Moroccan subjects by polymerase chain reaction-restrictive fragment length polymorphism. The observed genotype frequencies were 43% for 1236CC, 49% for 1236CT, and 8% for 1236TT in exon 12; 49% for 2677GG, 47% for 2677GT, and 4% for 2677TT in exon 21; 39% for 3435CC, 51% 3435CT for 3435TT, and 10% for 3435TT in exon 26, respectively. We found that all polymorphisms were in Hardy-Weinberg equilibrium. Moderate linkage disequilibrium (LD) was observed between the three polymorphisms, the strongest LD in our study has been observed between C1236T and G2677T (D'=0.76; r(2)=0.45). We identified eight haplotypes, the most frequent were 1236C-2677G-3435C (53%), 1236T-2677T-3435T (21%), and 1236C-2677G-3435T (10%), respectively. Our findings might facilitate future studies on pharmacokinetics of P-glycoprotein substrate drugs and interindividual variability to drugs in Moroccan patients.

<b><i>Background:</i></b> Intellectual disability (ID) has been defined as a considerably reduced ability to understand new or complex information and to learn new skills. It is associated with life-long intellectual and adaptive functioning impairments that have a profound impact on individuals, families, and society. It affects about 3% of the general population. ID often comes out with other mental conditions like attention deficit, hyperactivity, and autism spectrum disorders (ASD), and it can be part of a malformation syndrome that affects other organs. It may be syndromic (S-ID) or non-syndromic (NS-ID). <b><i>Objective:</i></b> The aims of this study were to identify the profile of intellectually disable patients being referred for cytogenetic analysis in Morocco, to determine the prevalence of chromosomal abnormalities in a Moroccan group, and to compare the results with those of analogous studies from other countries. <b><i>Participants:</i></b> We included data from Moroccan patients with NS-ID and others with S-ID (mostly Down syndrome cases) who have been referred between 1996 and 2016. 1,626 patients were involved in this study, 1,200 were referred with a clinical diagnosis of Down syndrome, 37 were clinically diagnosed for ASD with ID, and 389 were suspected of NS-ID. <b><i>Results:</i></b> We identified 1,200 cases of Down syndrome. In 1,096 analyses (91.3%), a cytogenetic variant of trisomy 21 was identified: standard trisomy 21 in 1,037 cases (94.6%), a translocation in 34 cases (3.10%), and mosaicism in 25 cases (2.3%). The cytogenetic analysis among ASD with ID cases did not reveal any specific chromosomal abnormalities. The present study also shows that chromosomal abnormalities were present in 6.43% of the patients with NS-ID (25 abnormal karyotypes out of 389 NS-ID cases). Autosomal structural abnormalities were the largest proportion of chromosomal aberrations. <b><i>Conclusion:</i></b> The high rate of chromosomal abnormalities found in the Moroccan patients studied demonstrates the capital importance of cytogenetic evaluation in patients who show ID or any clinical development abnormality.

Purpose: A proportion of cases with repeated abortion are caused by chromosomal abnormality in one of the parents. The purpose of this study was to assess the frequency and nature of chromosomal aberrations that contribute to the occurrence of recurrent miscarriages. Several studies have been done to determine the role of chromosomal abnormalities in couples with recurrent spontaneous abortion in various countries. None of these studies was done in Morocco. Material and Methods: Cytogenetic study was done for 238 Moroccan couples who presented with repeated abortion at the Institut Pasteur, Casablanca, Morocco. Results: We found that the frequency of chromosomal abnormalities was not significantly different from that reported worldwide. Chromosomal abnormalities were detected in 13 (6.1%) of 238 couples. twelve of chromosomal abnormalities were structural and one of them were numerical. Conclusion: This study highlights the importance of constitutional cytogenetic exploration of couples with a history of repeated spontaneous abortion. Cytogenetic findings could provide valuable information for genetic counseling and allow monitoring of future pregnancies by prenatal diagnosis in couples with a history of recurrent miscarriage.

Chromosomal abnormalities are the main genetic risk factor associated with reproductive and sexual development disorders (DSD). The goal of this study is to retrospectively evaluate the frequency of chromosomal aberrations in Moroccan subjects with problems of procreation or sexual ambiguity. A total of 1005 individuals, including 170 infertile couples, underwent cytogenetic analysis in the Cytogenetic Laboratory of the Pasteur Institute of Morocco. Heparinized blood samples were processed according to the standard karyotype method. A total (81.5%) of the patients studied had a normal karyotype, while the remaining (18.5%) patients had an abnormal karyotype. Female patients had more chromosomal abnormalities (52%) than male patients (48%). These chromosomal aberrations included 154 cases (83%) of sex chromosomal abnormalities, the most common being Turner’s syndrome and Klinefelter’s syndrome, and 31 cases (17%) had autosomal aberrations, especially chromosome 9 reversal (inv(9)(p12;q13)). The present data shows that among 170 couples, 10.6% had chromosomal abnormalities mainly involved in the occurrence of recurrent miscarriages. Genotype-phenotype correlations could not be made, and therefore, studies using more resolutive molecular biology techniques would be desirable.