Chromosome Abnormalities Related to Reproductive and Sexual Development Disorders: A 5-Year Retrospective Study.
Abortion, Habitual
/ genetics
Adolescent
Adult
Child
Child, Preschool
Chromosome Aberrations
Chromosome Disorders
/ epidemiology
Cytogenetics
Female
Genetic Predisposition to Disease
/ genetics
Humans
Infant
Infant, Newborn
Infertility
/ genetics
Karyotype
Karyotyping
Klinefelter Syndrome
/ epidemiology
Male
Middle Aged
Morocco
Retrospective Studies
Sexual Development
/ genetics
Sexual and Gender Disorders
/ epidemiology
Translocation, Genetic
/ genetics
Turner Syndrome
/ epidemiology
Young Adult
Journal
BioMed research international
ISSN: 2314-6141
Titre abrégé: Biomed Res Int
Pays: United States
ID NLM: 101600173
Informations de publication
Date de publication:
2021
2021
Historique:
received:
01
09
2020
accepted:
23
04
2021
entrez:
26
5
2021
pubmed:
27
5
2021
medline:
21
9
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 34036105
doi: 10.1155/2021/8893467
pmc: PMC8118731
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
8893467Informations de copyright
Copyright © 2021 Sara Benchikh et al.
Déclaration de conflit d'intérêts
The authors declare that they have no conflict of interest.
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