Variantes en el número de copias y consanguinidad parental en neonatos de altura con anomalías congénitas en Perú

Barriga, Hugo Hernán Abarca; Velásquez, Felix Chavesta; Barletta-Carrillo, Claudia; Tacuri, Abel Paucarmayta; Hurtado, Margaret Bazán; Vasquez-Loarte, Tania; Rondón, Luis Ordoñez; Ordoñez-Linares, Marco Edmundo; Rondón-Abuhadba, Evelina Andrea

doi:10.31053/1853.0605.v79.n2.34538

Cited by 1 publication

(1 citation statement)

References 24 publications

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“…The high prevalence of DSDs in SSA countries is ascribed to two major causes: (i) consanguinity and endogamy in these populations [ 2 ], and (ii) the excessive use of insecticides such as Dichlorodiphenyltrichloroethane (DDT) in agriculture or farming in order to eradicate tropical endemic diseases [ 43 ]. Consanguinity and endogamy are well-known causes of many genetic disorders, including DSDs [ 44 ]. DDT is recognized as an endocrine disruptor causing a reduction in sperm quality and increased risk of congenital diseases [ 45 ].…”

Section: Discussionmentioning

confidence: 99%

Telomere Dysfunction in Pediatric Patients with Differences/Disorders of Sexual Development

Younoussa,

Gadji,

Soumboundou

et al. 2024

Biomedicines

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Differences/Disorders of sex development (DSDs) are conditions in which the development of chromosomal, gonadal, and anatomical sexes is atypical. DSDs are relatively rare, but their incidence is becoming alarmingly common in sub-Saharan Africa (SSA). Their etiologies and mechanisms are poorly understood. Therefore, we have investigated cytogenetic profiles, including telomere dysfunction, in a retrospective cohort of Senegalese DSD patients. Materials and methods: Peripheral blood lymphocytes were sampled from 35 DSD patients (mean age: 3.3 years; range 0–18 years) admitted to two hospital centers in Dakar. Peripheral blood lymphocytes from 150 healthy donors were used as a control. Conventional cytogenetics, telomere, and centromere staining followed by multiplex FISH, as well as FISH with SRY-specific probes, were employed. Results: Cytogenetic analysis identified 19 male and 13 female patients with apparently normal karyotypes, two patients with Turner syndrome, and one patient with Klinefelter syndrome. Additional structural chromosome aberrations were detected in 22% of the patients (8/35). Telomere analysis revealed a reduction in mean telomere lengths of DSD patients compared to those of healthy donors of similar age. This reduction in telomere length was associated with an increased rate of telomere aberrations (telomere loss and the formation of telomere doublets) and the presence of additional chromosomal aberrations. Conclusions: To the best of our knowledge, this study is the first to demonstrate a correlation between telomere dysfunction and DSDs. Further studies may reveal the link between telomere dysfunction and possible mechanisms involved in the disease itself, such as DNA repair deficiency or specific gene mutations. The present study demonstrates the relevance of implementing telomere analysis in prenatal tests as well as in diagnosed genetic DSD disorders.

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