Abstract
We describe a case of a six-year-old girl who presents multiple dysmorphic features characteristic of Down’s syndrome. She has a significant general developmental delay, with a score that correspond to 32 months of developmental age. This delay is especially in language, with a very scant vocabulary. She communicates with some hand sign words or pointing, although her auditory responses in hearing test were normal. Two previous karyotype studies showed 47, XXX, +21 anomalies. This double trisomy is a rare condition described in isolated cases in the literature and none of these refers to the developmental aspects of these children (Balwan et al. 2008; Li et al.2004; Park et al. 1995; Day et al. 1963).
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Change history
06 June 2018
In both the abstract and introduction, the karyotype of a patient with double trisomy is described as ‘47, XXX, +21’, where it should read as ‘48, XXX, +21’.
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Vergara-Mendez, L.D., Talero-Gutiérrez, C. & Velez-Van-Meerbeke, A. Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype. J Genet 97, 337–340 (2018). https://doi.org/10.1007/s12041-018-0916-x
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DOI: https://doi.org/10.1007/s12041-018-0916-x