Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome
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Date
2021-03-05Authors
Manotas, MariaGarcia-Acero, Mary
González, Daniel M.
Moreno Niño, Olga María
Suárez-Obando, F.
Cespedes Salazar, Camila
Forero Ronderos, Catalina
Perez Niño, Jaime
Fernandez, Nicolas
Rojas, Adriana
Corporate Author(s)
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Cirugía y Especialidades. Urología
Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Pediatría
Type
Artículo de revista
ISSN
1661-5425 / 1661-5433 (Electrónico)
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Abstract
Isodicentric Y chromosome [idic(Y)] is one of the most common structural abnormalities of the Y chromosome and has been observed in patients with reproductive disorders and in patients with disorders of sexual development. Most idic(Y) chromosomes are found in mosaic form with a 45,X cell line. These chromosomes are highly unstable during mitosis due to the presence of 2 centromers, which explains their probable loss in early mitosis or mitosis of the embryo and therefore the presence of the 45,X line. It has been hypothesized that the proportion of 45,X cells in various tissues probably influences the phenotypic sex of individuals carrying an idic(Y) chromosome, ranging from infertile men, hypospadias, ambiguous genitalia, and Turner syndrome to sex reversal. In this article we present 5 cases of patients with idic(Y) referred for suspected disorder of sex development (DSD), 3 with a male assignment and 2 with a female assignment. All cases have variable clinical characteristics, which
were assessed by the transdisciplinary group of Disorders of Sex Development of the Hospital Universitario San Ignacio, Bogotá, Colombia. Patients were analyzed by conventional and molecular cytogenetics using high-resolution G-band and FISH techniques. Our findings highlight the importance of cytogenetic studies in the diagnosis of DSD patients.
Spatial coverage (cities)
Bogotá (Colombia)Spatial coverage
ColombiaLink to the resource
https://www.karger.com/Article/Abstract/512803Source
Sexual Development; Volumen 14 Número 1-6 , Páginas 12 - 20 (2021)
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