Abnormal Karyotype: 45, XXt (13q; 14q) 5p+++

Authors

  • Elayne Esther Santana Hernández Centro Provincial de Genética Médica. Holguín.
  • Víctor Jesús Tamayo Chang Centro Provincial de Genética Médica de Holguín.
  • Julio Armando Sánchez Delgado Centro Municipal de Genética de Banes de Holguín. Cuba.
  • Mirsa Rosas Hernández Centro Municipal de Genética de Banes de Holguín.
  • María Paneque Área Centro Provincial de Genética Médica de Holguín.

Keywords:

Genetic translocation, Trisomy.

Abstract

The karyotype study performed to an 8-year-old female patient, under previous study due to moderate intellectual disability and facial dysmorphias in the limbs, showed the following results:   45, XXt (13q; 14q) 5p+++. In this study a chromosomal finding of an inherited Robertsonian translocations by maternal line combined with a partial trisomy of chromosome 5p was reported

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Author Biographies

Elayne Esther Santana Hernández, Centro Provincial de Genética Médica. Holguín.

Especialista de Primer y Segundo Grado de Genética Clínica. Máster en Atención Integral al Niño. Profesora Auxiliar.

Víctor Jesús Tamayo Chang, Centro Provincial de Genética Médica de Holguín.

Especialista de Primer y Segundo Grado en Genética Clínica. Máster en Atención Integral al Niño. Profesor Auxiliar.

Julio Armando Sánchez Delgado, Centro Municipal de Genética de Banes de Holguín. Cuba.

Especialista de Primer Grado en Medicina General Integral. Máster en Asesoramiento Genético. Profesor Auxiliar.

Mirsa Rosas Hernández, Centro Municipal de Genética de Banes de Holguín.

Especialista de Primer Grado en Medicina General Integral. Máster en Asesoramiento Genético. Instructora.

María Paneque Área, Centro Provincial de Genética Médica de Holguín.

Licenciada en Biología. Departamento de Citogenética.

References

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8. 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

9. 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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Published

2015-06-28

How to Cite

1.
Santana Hernández EE, Tamayo Chang VJ, Sánchez Delgado JA, Rosas Hernández M, Paneque Área M. Abnormal Karyotype: 45, XXt (13q; 14q) 5p+++. Rev Ciencias Médicas [Internet]. 2015 Jun. 28 [cited 2025 Sep. 19];19(3):564-9. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/2156

Issue

Vol. 19 No. 3 (2015)

Section

CASE REPORTS

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