Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype

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). © 2018, Indian Academy of Sciences.

• Fecha de publicación: 2018
• Institución: Universidad del Rosario
• Repositorio: Repositorio EdocUR - U. Rosario
• Idioma: eng
• OAI Identifier: oai:repository.urosario.edu.co:10336/22353
• Acceso en línea: https://doi.org/10.1007/s12041-018-0916-x; https://repository.urosario.edu.co/handle/10336/22353
• Palabra clave: Blood; Child; Down syndrome; Facies; Female; Genetics; Hearing test; Human; Karyotyping; Phenotype; Trisomy; Child; Down syndrome; Facies; Female; Hearing tests; Humans; Karyotyping; Phenotype; Trisomy; Developmental delay; Double trisomy; Down’s syndrome; Triple x syndrome
• License: Abierto (Texto Completo)