Un cariotipo anormal: 45, XX t (13q; 14q) 5p+++

Elayne Esther Santana Hernández, Víctor Jesús Tamayo Chang, Julio Armando Sánchez Delgado, Mirsa Rosas Hernández, María Paneque Área

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Resumen

El cariotipo realizado a una paciente del sexo femenino de 8 años de edad, que estaba siendo estudiada por discapacidad intelectual moderada, dismorfias faciales y en las extremidades, reveló el siguiente resultado: 45, XX t (13q; 14q) 5p+++. En este trabajo se reporta el hallazgo cromosómico de una translocación robertsoniana heredada por vía materna combinada con una trisomía parcial del cromosoma

Palabras clave

Translocacion genética; Trisomía.

Referencias

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Kuroda S, Yumura Y, Yasuda K, Yamanaka H, Takeshima T, et al. Clinical investigation of male infertile patients with chromosomal anomalies. Hinyokika Kiyo. 2014 Jul; 60(7): 309-13.

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De Krom G, Arens YH, Coonen E, Van Ravenswaaij-Arts CM, Meijer-Hoogeveen M, et al. Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD. Hum Reprod[internet]. 2015 Feb; 30(2):484-9. Available from: http://pubfacts.com/detail/25432924/Recurrent-miscarriage-in-translocation-carriers:-no-differences-in-clinical-characteristics-between

Kuroda S, Yumura Y, Yasuda K, Yamanaka H, Takeshima T, et al. Clinical investigation of male infertile patients with chromosomal anomalies. Hinyokika Kiyo. 2014 Jul; 60(7):309-13.

Kolgeci S, Kolgeci J, Azemi M, Shala R, Dakas A, Sopjani M. Reproductive risk of the silent carrier of Robertsonian translocation. Med Arch[internet]. 2013; 67(1):56-9. Available from: http://www.scopemed.org/fulltextpdf.php?mno=33388



Copyright (c) 2015 Elayne Esther Santana Hernández, Víctor Jesús Tamayo Chang, Julio Armando Sánchez Delgado, Mirsa Rosas Hernández, María Paneque Área

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