Volume 28, Issue 5

DOI: 10.24205/03276716.2019.1160


Introduction: The trisomy 22 in mosaic is a rare chromosomal disease was first described in 1976 by Zellweger(Zellweger, Ionasescu,, Simpson y Burmeister, 1976). Patients: We present a study cuasiexperimental pre-post treatment of a rare genetic condition in mosaic trisomy 22, compared with a trisomy 21 and a typically developing child.Method: Is a study cuasiexperimental(pre-post), as it evaluates the performance of two young girls (21 and 22 trisomy mosaic, both) before and after treatment application in different areas:motor, cognitive, language andsocial, andcompares theirperformance inboth situations, with a typically developing child to which no treatment is applied. Results: The results suggest a specific profile characterized by atypical evolutionary development in different areas of the same. We discuss the need for differentiated and specific interventions in childrenwith trisomy 22 mosaic, since the results are very similar in both diseases, although slightly lower in all areas in the case of trisomy 22. Conclusions: This study is the first evidence available about the profile description of the development of this trisomy in Spain and aims to help establish whether intervention guidelines spreads are needed on other chromosomal, and it is argued that if their evolutionary development is similar to the trisomy 21 could be improved expectations transmitted by the doctor in genetic counseling. The difference or not with other genetic diseases could lead to an improvement in the expectations offered by health professionals, and then build differential early treatment interventions.

Rare desease; Trisomy 22 mosaic; Early childhood; Trisomy 21.

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