Chromosome Abnormalities Related to Reproductive and Sexual Development Disorders: A 5-Year Retrospective Study

Abstract

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.

Figure 1

Different anomalies detected in patients. Others = deletion, addition, satellite chromosome, chimerism, marker chromosome.

Figure 2

Distribution of the main chromosomal rearrangements found according to age.

Figure 3

(a) Blood karyotype in RHG tape showing a 46,XXY,t(21;22)(q10; q10) formula. (b) Blood karyotype in RHG tape showing a 47,X,der(X)t(X;X)(q12; q11.3), der(X)t(X;X)(q11;q11.3) formula. (c) Blood karyotype in RHG tape showing a 45,X,t(Y;9) (p11;q34) formula.