scholarly journals A de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features

2013 ◽  
Author(s):  
A. Dheedene ◽  
M. Maes ◽  
S. Vergult ◽  
B. Menten
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Dysmorphic Features

De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features

2018 ◽  
Vol 63 (8) ◽  
pp. 919-922 ◽  
Author(s):  
Ekaterina R. Lozier ◽  
Fedor A. Konovalov ◽  
Ilya V. Kanivets ◽  
Denis V. Pyankov ◽  
Philip A. Koshkin ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Nonsense Mutation ◽  
De Novo ◽  
Dysmorphic Features

scholarly journals A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features

Genes ◽  
2020 ◽  
Vol 11 (6) ◽  
pp. 707 ◽  
Author(s):  
Orazio Palumbo ◽  
Pietro Palumbo ◽  
Ester Di Muro ◽  
Luigia Cinque ◽  
Antonio Petracca ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Chromosome Region ◽  
Snp Array ◽  
Supporting Evidence ◽  
Speech Delay ◽  
Dysmorphic Features ◽  
Phenotype Comparison ◽  
Molecular Comparison ◽  
Snp Array Analysis

No data on interstitial microduplications of the 16q24.2q24.3 chromosome region are available in the medical literature and remain extraordinarily rare in public databases. Here, we describe a boy with a de novo 16q24.2q24.3 microduplication at the Single Nucleotide Polymorphism (SNP)-array analysis spanning ~2.2 Mb and encompassing 38 genes. The patient showed mild-to-moderate intellectual disability, speech delay and mild dysmorphic features. In DECIPHER, we found six individuals carrying a “pure” overlapping microduplication. Although available data are very limited, genomic and phenotype comparison of our and previously annotated patients suggested a potential clinical relevance for 16q24.2q24.3 microduplication with a variable and not (yet) recognizable phenotype predominantly affecting cognition. Comparing the cytogenomic data of available individuals allowed us to delineate the smallest region of overlap involving 14 genes. Accordingly, we propose ANKRD11, CDH15, and CTU2 as candidate genes for explaining the related neurodevelopmental manifestations shared by these patients. To the best of our knowledge, this is the first time that a clinical and molecular comparison among patients with overlapping 16q24.2q24.3 microduplication has been done. This study broadens our knowledge of the phenotypic consequences of 16q24.2q24.3 microduplication, providing supporting evidence of an emerging syndrome.

scholarly journals The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features

2017 ◽  
Vol 4 (1) ◽  
Author(s):  
Hiroaki Hanafusa ◽  
Naoya Morisada ◽  
Yusuke Ishida ◽  
Ryosuke Sakata ◽  
Keiichi Morita ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Dysmorphic Features

A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features

2012 ◽  
Vol 55 (11) ◽  
pp. 656-659 ◽  
Author(s):  
E. Preiksaitiene ◽  
K. Männik ◽  
V. Dirse ◽  
A. Utkus ◽  
Z. Ciuladaite ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Dysmorphic Features

A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features

2012 ◽  
Vol 55 (12) ◽  
pp. 695-699 ◽  
Author(s):  
Karijn Floor ◽  
Tuva Barøy ◽  
Doriana Misceo ◽  
Øivind J. Kanavin ◽  
Madeleine Fannemel ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
Mild Intellectual Disability ◽  
Dysmorphic Features
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