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Case Reports
. 2019;76(5):246-250.
doi: 10.24875/BMHIM.19000003.

Trisomy 13 mosaicism

Francisco Cammarata-Scalisi  1 , Dianora Araque  1 , Rosmary Ramírez  2 , Luis Guaran  3 , Gloria Da Silva  1
Affiliations
Case Reports

Trisomy 13 mosaicism

Francisco Cammarata-Scalisi et al. Bol Med Hosp Infant Mex. 2019.

Abstract
in English, Spanish

Background: Trisomy 13 is a chromosomal alteration with an incidence of 1 in 10,000 to 20,000 births. It can occur completely, partially or in mosaicism; the latter occurs when a percentage of cells are trisomic for chromosome 13, while the rest are euploid in an individual and corresponds to only 5% of all cases. Patients with trisomy 13 present a wide variable expressivity, ranging from severe malformations with early death (phenotype similar to the complete form and more frequent), to normal development and few dysmorphic findings.

Case reports: The clinical and cytogenetic findings of two new cases of trisomy 13 mosaicism are described.

Conclusions: The importance of prenatal diagnosis, clinical findings, and interdisciplinary medical evaluation is highlighted, as well as an appropriate genetic counseling.

Introducción: La trisomía 13 es una alteración cromosómica con una incidencia de 1 en 10,000 a 20,000 nacimientos. Puede ocurrir de forma completa, parcial o en mosaicismo. Este último caso ocurre cuando, en un individuo, un porcentaje de células son trisómicas para el cromosoma 13 mientras que el resto son euploides, y corresponde solamente al 5% de todos los casos. Los pacientes que padecen trisomía 13 presentan una expresividad variable, que va desde malformaciones graves con muerte temprana (fenotipo similar a la forma completa y más frecuente) hasta un desarrollo normal y pocos hallazgos dismórficos.

Casos clínicos: Se presentan los hallazgos clínicos y citogenéticos de dos casos nuevos de mosaicismo de trisomía 13.

Conclusiones: Se resalta la importancia del diagnóstico prenatal, los hallazgos clínicos y la evaluación médica interdisciplinaria, así como un asesoramiento genético oportuno.

Keywords: Asesoramiento genético; Clinical; Clínica; Diagnóstico prenatal; Genetic counseling; Mosaicism; Mosaicismo; Prenatal diagnosis; Trisomy 13; Trisomía 13.

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