TY  -  
T1  - Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders 
SN  -  /  
UR  - http://hdl.handle.net/10138/336892 
T3  -  
A1  - Kokkonen, Hannaleena; Siren, Auli; Määttä, Tuomo; Kamila Kadlubowska, Magda; Acharya, Anushree; Nouel-Saied, Liz M.; Leal, Suzanne M.; Jarvela, Irma; Schrauwen, Isabelle 
A2  -  
PB  -  
Y1  - 2021 
LA  - eng 
AB  - Background: Microduplications are a rare cause of disease in X-linked neurodevelopmental disorders but likely have been under reported due challenges in detection and interpretation. Methods: We performed exome sequencing and subsequent microarray analysis in two families with a neurodevelopmental disorder. Results: Here, we report on two families each with unique inherited microduplications at Xp21.2 and Xq13.1, respectively. In the first family, a 562.8-kb duplication at Xq13.1 covering DLG3, ... 
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KW  - exome sequencing; intellectual disability; microduplication; neurodevelopmental disorders; X-chromosome; INTELLECTUAL DISABILITY; DEVELOPMENTAL DELAY; MENTAL-RETARDATION; X-CHROMOSOME; DUPLICATION; MUTATIONS; AUTISM; DELETIONS; GENES; 3111 Biomedicine 
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ER  -