2019, Number 5
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Bol Med Hosp Infant Mex 2019; 76 (5)
Trisomy 13 mosaicism
Cammarata-Scalisi F, Araque D, Ramírez R, Guaran L, Da Silva G
Language: Spanish
References: 12
Page: 198-202
PDF size: 109.53 Kb.
ABSTRACT
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.
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