Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report
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CASE REPORT
Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report Paola E. Leone1*† , Verónica Yumiceba1†, Ariana Jijón‑Vergara1, Andy Pérez‑Villa1, Isaac Armendáriz‑Castillo1, Jennyfer M. García‑Cárdenas1, Santiago Guerrero1, Patricia Guevara‑Ramírez1, Andrés López‑Cortés1, Ana K. Zambrano1, Jesús M. Hernández‑Rivas2,3, Juan Luis García3,4 and César Paz‑y‑Miño1*†
Abstract Background: Turner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who present structural alterations in autosomal chromosomes. Case presentation: The present case report describes a patient with a reciprocal, maternally inherited translocation between chromosomes 2 and 12 with a mosaicism of X monosomy 45,X,t(2;12)(p13;q24)[95]/46,XX,t(2;12)(p13;q24) [5]. Through genetic mapping arrays, altered genes in the patient were determined within the 23 chromosome pairs. These genes were associated with the patient’s clinical features using a bioinformatics tool. Conclusion: To our knowledge, this is the first case in which a translocation (2;12) is reported in a patient with Turner syndrome and confirmed by conventional cytogenetics, FISH and molecular genetics. Clinical features of our patient are closely related with the loss of one X chromosome, however mild intellectual disability can be likely explained by autosomal genes. The presence of familial translocations was a common finding, thus emphasizing the need for familiar testing for further genetic counselling. Keywords: Turner syndrome, Reciprocal translocation, Cytogenetics, Genetic mapping arrays, FISH
Background Turner syndrome (TS) is a chromosomal disorder caused by a complete or partial monosomy of the X chromosome. It affects about 1 out of every 2500 newborn girls. This is the only genetic disorders where the absence of a *Correspondence: [email protected]; [email protected] † Paola E. Leone, Verónica Yumiceba and César Paz-y-Miño contributed equally to the study 1 Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Av. Mariscal Sucre y Av. Mariana de Jesús, Sede Occidental, Bloque I, 2 Floor, 170129 Quito, Ecuador Full list of author information is available at the end of the article
whole chromosome is compatible with life [1]. This condition presents several cytogenetic variants, being the monosomy 45,X the most frequent (45–55%), followed by structural changes in a X chromosome (25–30%) as isochromosome of the long arm, isochromosome mosaic, deletions and ring chromosomes [1, 2]. In Ecuador, X chromosome monosomy represents 40.42%, TS mosaic accounts for 25.3% and structural alterations of X chromosome appeared in 7.9% of TS patients [3]. TS complex phenotype is characterized by growth failure, delayed puberty, primary amenorrhea, gonadal dysgenesis, ovarian insufficiency, alopecia, hirsutism, low extremity
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