Genetic syndromes are well characterized by the phenotypic point of view, but little is known about their progression and patients’ quality of life. We report a 10-year neuropsy-chiatric follow-up of a boy with duplication of chromosome 19. Cytogenetic investigation was requested at the age of 5 years for psychomotor and speech delay. The genomic study identified an 8.17 Mb duplication on chromosome 19q12q13.2. We propose that the long-term follow-up of our patient would help to delineate the neuropsychiatric phenotype associated with 19q duplication. This study could be a model for further long-term research in the neuropsychiatric follow-up of patients with 19q duplication syndrome.

Nacinovich, R., Villa, N., Broggi, F., Tavaniello, C., Bomba, M., Conconi, D., et al. (2017). 19q12q13.2 duplication syndrome: Neuropsychiatric long-term follow-up of a new case and literature update. NEUROPSYCHIATRIC DISEASE AND TREATMENT, 13, 2545-2550 [10.2147/NDT.S142356].

19q12q13.2 duplication syndrome: Neuropsychiatric long-term follow-up of a new case and literature update

Nacinovich, R
;
Villa, N;Broggi, F;Tavaniello, C;Bomba, M;Conconi, D;Redaelli, S;Sala, E;Lavitrano, M;Neri, F
2017

Abstract

Genetic syndromes are well characterized by the phenotypic point of view, but little is known about their progression and patients’ quality of life. We report a 10-year neuropsy-chiatric follow-up of a boy with duplication of chromosome 19. Cytogenetic investigation was requested at the age of 5 years for psychomotor and speech delay. The genomic study identified an 8.17 Mb duplication on chromosome 19q12q13.2. We propose that the long-term follow-up of our patient would help to delineate the neuropsychiatric phenotype associated with 19q duplication. This study could be a model for further long-term research in the neuropsychiatric follow-up of patients with 19q duplication syndrome.
Articolo in rivista - Articolo scientifico
19q duplication; Array-CGH; Neuropsychiatric follow-up;
19q duplication; neuropsychiatric follow-up; array-CGH
English
ott-2017
2017
13
2545
2550
open
Nacinovich, R., Villa, N., Broggi, F., Tavaniello, C., Bomba, M., Conconi, D., et al. (2017). 19q12q13.2 duplication syndrome: Neuropsychiatric long-term follow-up of a new case and literature update. NEUROPSYCHIATRIC DISEASE AND TREATMENT, 13, 2545-2550 [10.2147/NDT.S142356].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/161030
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