Reported here is a novel patient carrying an unbalanced t (10q26.11-q26.3; 7p22.3) and presenting with a severe intellectual disability with autistic features, abnormalities of muscle tone, and a drug-responsive epilepsy. The prominence of neurological and neurodevelopmental abnormalities in the clinical phenotype highlights a possible pathogenic role for different genes in the involved regions. Hypothetical mechanisms may include a possible gene dosage effect for DOCK1 and/or haploinsufficiency of PRKAR1B SUN1, ADAP1, and GPER1.
Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11) / Mastrangelo, M; Torres, B; De Vita, G; Goldoni, M; De Giorgi, A; Bernardini, L; Leuzzi, V. - In: JOURNAL OF PEDIATRIC GENETICS. - ISSN 2146-4596. - (2020). [10.1055/s-0040-1715479]
Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11)
Mastrangelo, M;Torres, B;De Vita, G;Goldoni, M;De Giorgi, A;Bernardini, L;Leuzzi, V
2020
Abstract
Reported here is a novel patient carrying an unbalanced t (10q26.11-q26.3; 7p22.3) and presenting with a severe intellectual disability with autistic features, abnormalities of muscle tone, and a drug-responsive epilepsy. The prominence of neurological and neurodevelopmental abnormalities in the clinical phenotype highlights a possible pathogenic role for different genes in the involved regions. Hypothetical mechanisms may include a possible gene dosage effect for DOCK1 and/or haploinsufficiency of PRKAR1B SUN1, ADAP1, and GPER1.| File | Dimensione | Formato | |
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