We describe the case of a six-year-old girl with multiple dysmorphic features characteristic of Down syndrome.
She has a significant overall developmental delay, with a score corresponding to 32 months of developmental age. This delay is
especially in the language, with a very scarce vocabulary. She communicates with some hand signs or pointing words, although her auditory
responses in the hearing test were normal. Two previous karyotype studies showed 48, XXX, +21 abnormalities. This double trisomy is a
rare disease described in isolated cases in the literature and none of them refers to the developmental aspects of these children
(Balwan et al. 2008; Li et al. 2004; Park et al. 1995; Day et al. 1963)..
|Translated title of the contribution||Erratum a: Trisomía doble (XXX+21 cariotipo) en una niña de seis años con fenotipo caído (Journal of Genetics, (2018), 97, 1, (337-340), 10.1007/s12041-018-0916-x)|
|Original language||English (US)|
|Number of pages||1|
|Journal||Journal of Genetics|
|State||Published - Jun 1 2018|
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