Síndrome 48, XXXY: presentación de un caso

Authors

  • Carmen María Chiong Quesada Centro Provincial de Genética. Camagüey, Cuba.
  • Nelson H. Martín Cuesta
  • Roberto Hernández Hernández
  • Martín Chiong Quesada

Abstract

RESUMEN

Fundamento: se presentó un paciente blanco, masculino, de 21 años de edad con dismorfia facial, hipogenitalismo, anomalías esqueléticas y retraso mental severo. Para el diagnóstico de esta afección se aplicó el método clínico a través de la técnica comparativa o de patrón. Se realizó estudio cromosómico en sangre periférica, se emplearon técnicas convencionales (banda GTG) confirmándose el diagnóstico del Síndrome 48, XXXY. Resulta de gran importancia tener en cuenta las manifestaciones clínicas antes mencionadas para establecer el diagnóstico precoz de este síndrome, ofrecer asesoramiento genético oportuno a los padres, así como rehabilitar física, psíquica y socialmente a estos pacientes.

Downloads

Download data is not yet available.

Downloads

Published

2014-07-28

How to Cite

1.
Chiong Quesada CM, Martín Cuesta NH, Hernández Hernández R, Chiong Quesada M. Síndrome 48, XXXY: presentación de un caso. Arch méd Camagüey [Internet]. 2014 Jul. 28 [cited 2025 Aug. 1];14(1). Available from: https://revistaamc.sld.cu/index.php/amc/article/view/2269

Issue

Vol. 14 No. 1 (2010)

Section

Case Reports

License

Copyright: Camagüey Medical Archive Magazine, offers immediately after being indexed in the SciELO Project; Open access to the full text of the articles under the principle of making available and free the research to promote the exchange of global knowledge and contribute to a greater extension, publication, evaluation and extensive use of the articles that can be used without purpose As long as reference is made to the primary source.

Conflicts of interest: authors must declare in a mandatory manner the presence or not of conflicts of interest in relation to the investigation presented.

(Download Statement of potential conflicts of interest)

The Revista Archivo Médico de Camagüey is under a License Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 International (CC BY 4.0).

This license allows others to distribute, to mix, to adjust and to build from its work, even for commercial purposes, as long as it is recognized the authorship of the original creation. This is the most helpful license offered. Recommended for maximum dissemination and use of licensed materials. The full license can be found at: https://creativecommons.org/licenses/