Deletions in chromosome 17q12 encompassing the HNF1Β gene cause cystic renal disease and maturity onset diabetes of the young, and have been recently described as the first recurrent genomic deletion leading to diabetes. Earlier reports of patients with this microdeletion syndrome have suggested an absence of cognitive impairment, differentiating it from most other contiguous gene deletion syndromes. The reciprocal duplication of 17 q12 is rare and has been hypothesized to be associated with an increased risk of epilepsy and mental retardation. We conducted a detailed clinical and molecular characterization of four patients with a deletion and five patients with a reciprocal duplication of this region. Our patients with deletion of 17q12 presented with cognitive impairment, cystic renal disease, seizures, and structural abnormalities of the brain. Patients with reciprocal duplications manifest with cognitive impairment and behavioral abnormalities, but not with seizures. Our findings expand the phenotypic spectrum associated with rearrangements of 17q12 and show that cognitive impairment is a part of the phenotype of individuals with deletions of 17q12.

Microfind approach for fluorescence in situ hybridizatio (FISH) detection of genetic lesions from scarce cell samples in haematological malignancies / R. Carbone, A. Zanardi, D. Venturini, S. Fabris, D. Bandiera, E. Barborini, G. Lambertenghi Deliliers, A. Neri. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1018-4813. - 18:Suppl. 1(2010), pp. 278-279. (Intervento presentato al convegno European Human Genetics Conference tenutosi a Gothenburg nel 2010) [10.1038/ejhg.2009.174].

Microfind approach for fluorescence in situ hybridizatio (FISH) detection of genetic lesions from scarce cell samples in haematological malignancies

S. Fabris;G. Lambertenghi Deliliers
Penultimo
;
A. Neri
Ultimo
2010

Abstract

Deletions in chromosome 17q12 encompassing the HNF1Β gene cause cystic renal disease and maturity onset diabetes of the young, and have been recently described as the first recurrent genomic deletion leading to diabetes. Earlier reports of patients with this microdeletion syndrome have suggested an absence of cognitive impairment, differentiating it from most other contiguous gene deletion syndromes. The reciprocal duplication of 17 q12 is rare and has been hypothesized to be associated with an increased risk of epilepsy and mental retardation. We conducted a detailed clinical and molecular characterization of four patients with a deletion and five patients with a reciprocal duplication of this region. Our patients with deletion of 17q12 presented with cognitive impairment, cystic renal disease, seizures, and structural abnormalities of the brain. Patients with reciprocal duplications manifest with cognitive impairment and behavioral abnormalities, but not with seizures. Our findings expand the phenotypic spectrum associated with rearrangements of 17q12 and show that cognitive impairment is a part of the phenotype of individuals with deletions of 17q12.
Settore MED/15 - Malattie del Sangue
2010
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/146051
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