De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features

2012 ◽  
Vol 158A (4) ◽  
pp. 882-887 ◽  
Author(s):  
Antonella Fabretto ◽  
Maria Santa Rocca ◽  
Maria Dolores Perrone ◽  
Aldo Skabar ◽  
Vanna Pecile ◽  
...  
Keyword(s):  
De Novo ◽  
Interstitial Deletion ◽  
Speech Delay ◽  
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 Deletion of 15q26.1 region with absence epilepsy respond to valproic acid: A Literature Overview and A Case Report from Qatar

2021 ◽  
pp. 210
Author(s):  
Keyword(s):  
Developmental Disorders ◽  
De Novo ◽  
Chromosomal Abnormalities ◽  
Intractable Epilepsy ◽  
Absence Epilepsy ◽  
Growth Delay ◽  
Comparative Genomic ◽  
Potential Candidate ◽  
Speech Delay ◽  
Dysmorphic Features

Chromosomal abnormalities involving deletions and duplications are known to cause severe developmental disorders, including mental retardation, dysmorphism, and seizures, in children. As the technique of array-based comparative genomic hybridization is being applied more frequently in the diagnostic evaluation of children with developmental disorders; novel pathologic chromosomal abnormalities are being identified in relation to various type of epilepsies in childhood. We report the case of a 4-year-old girl with a history of speech delay and communication disorder, mild dysmorphic features, and absence epilepsy with a de novo microdeletion 15q26.1. A much larger (5 Mb) but overlapping microdeletion has been previously reported in similar several cases with similar phenotype including intractable myoclonic and absence epilepsy, growth delay, and dysmorphic features. This leads us to propose that a potential candidate gene or genes within the deleted region involved in the pathogenesis of some forms of generalized intractable epilepsy, previously considered idiopathic should consider genetic study for childhood epilepsies especially if it was associated with underlying developmental delay in any particular aspect as speech delay in our case.

scholarly journals De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay

2014 ◽  
Vol 7 (1) ◽  
pp. 25 ◽  
Author(s):  
Giovanna Piovani ◽  
Giulia Savio ◽  
Michele Traversa ◽  
Alba Pilotta ◽  
Giuseppina De Petro ◽  
...  
Keyword(s):  
Mental Retardation ◽  
De Novo ◽  
Interstitial Deletion ◽  
Speech Delay

De Novo Interstitial Deletion of 1q32.2–q32.3 Including the Entire IRF6 Gene in a Patient with Oral Cleft and Other Dysmorphic Features

2011 ◽  
Vol 134 (2) ◽  
pp. 83-87 ◽  
Author(s):  
I. Salahshourifar ◽  
A.S. Halim ◽  
W.A.W. Sulaiman ◽  
R. Ariffin ◽  
N. Naili Muhamad Nor ◽  
...  
Keyword(s):  
De Novo ◽  
Interstitial Deletion ◽  
Oral Cleft ◽  
Dysmorphic Features ◽  
I Gene

Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay

2015 ◽  
Vol 145 (1) ◽  
pp. 19-24 ◽  
Author(s):  
Ioannis Papoulidis ◽  
Vassilis Paspaliaris ◽  
Elena Papageorgiou ◽  
Elissavet Siomou ◽  
Themistoklis Dagklis ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Interstitial Deletion ◽  
Facial Dysmorphism ◽  
Whole Genome ◽  
Chromosomal Band ◽  
Speech Delay ◽  
Microdeletion Syndrome ◽  
Mild Phenotype ◽  
Dysmorphic Features ◽  
Growth Deficiency

A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay. The chromosomal aberration was characterized by whole genome BAC aCGH. A comparison of the current patient and Glass syndrome features revealed that this case displayed a relatively mild phenotype. Overall, it is suggested that the deleted region of 2q33 causative for Glass syndrome may be larger than initially suggested.

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