RESUMO
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.
Assuntos
Aberrações Cromossômicas , Predisposição Genética para Doença/genética , Desenvolvimento Sexual/genética , Transtornos Sexuais e da Identidade de Gênero/genética , Aborto Habitual/genética , Adolescente , Adulto , Criança , Pré-Escolar , Transtornos Cromossômicos/epidemiologia , Transtornos Cromossômicos/genética , Citogenética , Feminino , Humanos , Lactente , Recém-Nascido , Infertilidade/genética , Cariótipo , Cariotipagem , Síndrome de Klinefelter/epidemiologia , Síndrome de Klinefelter/genética , Masculino , Pessoa de Meia-Idade , Marrocos , Estudos Retrospectivos , Transtornos Sexuais e da Identidade de Gênero/epidemiologia , Translocação Genética/genética , Síndrome de Turner/epidemiologia , Síndrome de Turner/genética , Adulto JovemRESUMO
The aim of the present study was to determine the frequency and nature of chromosomal abnormalities involved in patients with the clinical spectrum of ambiguous genitalia (AG), amenorrhea, and Turner phenotype, in order to compare them with those reported elsewhere. The study was conducted in the Cytogenetic Department of Pasteur Institute of Morocco, and it reports on the patients who were recruited between 1996 and 2016. Cytogenetic analysis was performed according to the standard method. Among 1,415 patients, chromosomal abnormalities were identified in 7.13% (48/673) of patients with AG, 17.39% (28/161) of patients with primary amenorrhea (PA), 4% (1/25) of patients with secondary amenorrhea, and 23.20% (129/556) of patients with Turner phenotype. However, Turner syndrome was diagnosed in 0.89% (6/673) of patients with AG, 10.56% (17/161) of patients with PA, and 19.78% (110/556) of patients with Turner phenotype. In addition, Klinefelter syndrome and mixed gonadal dysgenesis were confirmed in 2.97% and 1.93% of patients, respectively, with AG, while, chimerism, trisomy 8, and trisomy 13 were confirmed only in 0.15% each. Trisomy 21 was confirmed in patients with AG and Turner phenotype (0.15% and 0.36%, respectively). Moreover, 5.60% (9/161) of patients with PA have been diagnosed as having sex reversal. Thus, the frequency of chromosomal abnormalities observed in Moroccan patients with PA is comparable to that reported in Tunisia, Turkey, Iran, and Hong Kong. However, the frequency is significantly less than that identified in India, Malaysia, Italy, and Romania.
Assuntos
Centros Médicos Acadêmicos/história , Amenorreia/genética , Transtornos do Desenvolvimento Sexual/genética , Síndrome de Turner/genética , Adulto , Amenorreia/epidemiologia , Amenorreia/patologia , Quimerismo/estatística & dados numéricos , Cromossomos Humanos Par 8/genética , Transtornos do Desenvolvimento Sexual/epidemiologia , Transtornos do Desenvolvimento Sexual/patologia , Síndrome de Down/epidemiologia , Síndrome de Down/genética , Síndrome de Down/patologia , Feminino , Disgenesia Gonadal Mista/epidemiologia , Disgenesia Gonadal Mista/genética , Disgenesia Gonadal Mista/patologia , História do Século XX , História do Século XXI , Humanos , Incidência , Cariotipagem , Síndrome de Klinefelter/epidemiologia , Síndrome de Klinefelter/genética , Síndrome de Klinefelter/patologia , Masculino , Marrocos/epidemiologia , Estudos Retrospectivos , Trissomia/genética , Trissomia/patologia , Síndrome da Trissomia do Cromossomo 13/epidemiologia , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomia do Cromossomo 13/patologia , Síndrome de Turner/epidemiologia , Síndrome de Turner/patologiaRESUMO
PURPOSE: 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%.