Double aneuploidy in a Colombian child: Down-Klinefelter syndrome with Down syndrome phenotype

Authors

  • Harry Pachajoa Londoño Universidad del Valle
  • Diana Perilla Duque DIME, Clínica Neurocardiovascular, Cali, Colombia
  • Carolina Isaza de Lourido Universidad del Valle

DOI:

https://doi.org/10.17533/udea.iatreia.8434

Keywords:

Aneuploidy, Down Syndrome, Klinefelter Syndrome

Abstract

The occurrence of double aneuploidy in one person is a relatively rare phenomenon. We report the case of a 7-month-old child, the third-born of non-consanguineous parents, with clinical features of Down syndrome and karyotype 48XXY.

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Author Biographies

Harry Pachajoa Londoño, Universidad del Valle

MD, PhD (C), Profesor, Jefe Departamento de Ciencias Básicas Médicas, Facultad de Ciencias de la Salud, Universidad Icesi, Cali- Colombia.

Diana Perilla Duque, DIME, Clínica Neurocardiovascular, Cali, Colombia

Diagnóstico Médico (DIME), Clínica Neurocardiovascular, Cali, Colombia.

Carolina Isaza de Lourido, Universidad del Valle

MD, MSc, Profesora Titular, Facultad de Salud, Universidad del Valle, Cali, Colombia.

Published

2010-12-14

How to Cite

1.
Pachajoa Londoño H, Perilla Duque D, Isaza de Lourido C. Double aneuploidy in a Colombian child: Down-Klinefelter syndrome with Down syndrome phenotype. Iatreia [Internet]. 2010 Dec. 14 [cited 2025 Feb. 2];24(1):Pág. 87-89. Available from: https://revistas.udea.edu.co/index.php/iatreia/article/view/8434

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Section

Case reports

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