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Cerruti Mainardi, P., Perfumo, C., Calì, A., Coucorde, G., Pastore, G., Cavani, S., Zara, F., Overhauser, J., Pierluigi, M. and Dagna Bricarelli, F. (2001) Clinical and molecular characterization of 80 patients with 5p deletion: Genotype-phenotype correlation. Journal of Medical Genetics, 38, 417-420.
has been cited by the following article:
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TITLE:
A longitudinal study in atypical Cri-du chat profile: A single case report
AUTHORS:
Maria Rosa Pizzamiglio, Cristino Volpe, Laura Piccardi
KEYWORDS:
Cat Cry Syndrome; 5p-Syndrome; Narrative Discourse; Longitudinal Study; Mental Delay
JOURNAL NAME:
Case Reports in Clinical Medicine,
Vol.2 No.2,
May
9,
2013
ABSTRACT:
Background: Cri-du-Chat Syndrome (CdCS) is a rare genetic disorder
characterized by a severe mental delay, minimal verbal abilities and severe
learning difficulties. Methods: Here, we report two neuropsychological
assessments of an Italian girl (FS) with CdCS who was affected by a moderate
mental delay. The first assessment was made at 2.3 years and second at 6.5
years. Results: Her cognitive profile was characterized by a discrepancy
between social-communicative and visual-motor skills. Specifically, her linguistic skills were better than her ability to copy a drawing or play with a set of
building blocks. FS showed good lexical competence in both comprehension and production. Differently, her grammatical skills (i.e. comprehension
and production) were somewhat defective. Conclusion: The FS’s case, due to
her moderate mental delay and her preserved linguistic skills, allowed investigating some aspects of this syndrome never explored before.
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