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2020, Number 6

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Rev Mex Pediatr 2020; 87 (6)

Patau syndrome by reciprocal translocation between chromosomes 10 and 13

Peláez-Cantero MJ, Delicado-Calderón I, Sánchez-Torres L
Full text How to cite this article 10.35366/97689

DOI

DOI: 10.35366/97689
URL: https://dx.doi.org/10.35366/97689

Language: Spanish
References: 12
Page: 244-246
PDF size: 210.95 Kb.


Key words:

Patau syndrome, trisomy 13 syndrome, translocation 10, 13.

ABSTRACT

This is the case of a male newborn with a diagnosis of Patau syndrome; genetic cause was an uncommon variant, a reciprocal translocation between chromosomes 10 and 13. Clinical images of the patient as well as karyotype findings are presented.


REFERENCES

  1. BS Giersch. Congenital cytogenetic abnormalities. UpToDate [September 2019]. Available in: https://ws003.sspa.juntadeandalucia.es:2060/contents/congenital-cytogenetic-abnormalities?search=partial%20trisomy%2013&source=search_result&selectedTitle=1~150&usage_type=default&display_rank=1#H14

  2. Springett A, Wellesley D, Greenlees R, Loane M, Addor MC, Arriola L et al. Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000-2011. Am J Med Genet A. 2015; 167A(12): 3062-3069.

  3. Alberman E, Mutton D, Morris JK. Cytological and epidemiological findings in trisomies 13, 18, and 21: England and Wales 2004-2009. Am J Med Genet A. 2012; 158A(5): 1145-1150.

  4. Wu J, Springett A, Morris JK. Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011. Am J Med Genet A. 2013; 161A(10): 2512-2518.

  5. Lakovschek IC, Streubel B, Ulm B. Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis. Am J Med Genet A. 2011; 155A(11): 2626-2633.

  6. Baty BJ, Blackburn BL, Carey JC. Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet. 1994; 49(2): 175-188.

  7. Carey JC. Emerging evidence that medical and surgical interventions improve the survival and outcome in the trisomy 13 and 18 syndromes. Am J Med Genet A. 2020; 182(1): 13-14.

  8. Pyle AK, Fleischman AR, Hardart G, Mercurio MR. Management options and parental voice in the treatment of trisomy 13 and 18. J Perinatol. 2018; 38(9): 1135-1143.

  9. Kaye CI, Booth CW, Meeker D, Nadler HL. Cleft palate and multiple anomalies in one of two siblings with partial 13 trisomy. Cleft Palate J. 1977; 14(3): 244-248.

  10. Douglas C, Smith SA, Rohena L. Novel case of paternal paracentric inversion causing partial trisomy 13 and review of the literature. Am J Med Genet A. 2017; 173(6): 1673-1680. doi: 10.1002/ajmg.a.38192

  11. González-del Angel A, Estandia-Ortega B, Gaviño-Vergara A, Sáez-de-Ocariz M, Velasco-Hernández Mde L, Salas-Labadía C. A patient with trisomy 13 mosaicism with an unusual skin pigmentary pattern and prolonged survival. Pediatr Dermatol. 2014; 31(5): 580-583. doi: 10.1111/pde.12339.

  12. Haug S, Goldstein M, Cummins D, Fayard E, Merritt TA. Using patient-centered care after a prenatal diagnosis of trisomy 18 or trisomy 13: a review. JAMA Pediatr. 2017; 171(4): 382-387.




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Rev Mex Pediatr. 2020;87