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 48, 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).
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 48, 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).
| Translated title of the contribution | Trisomía doble (Kariotipo XXX+21) en una niña de 6 años con fenotipo Down |
|---|---|
| Original language | English (US) |
| Pages (from-to) | 337-340 |
| Number of pages | 4 |
| Journal | Journal of Genetics |
| Volume | 97 |
| Issue number | 2 |
| DOIs | |
| State | Published - Mar 19 2018 |
All Science Journal Classification (ASJC) codes
- Genetics