Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication‐deletion: genotype‐phenotype correlation for anomalies of the corpus callosum

2021 ◽  
Author(s):  
Roseline Vibert ◽  
Cyril Mignot ◽  
Boris Keren ◽  
Sandra Chantot‐Bastaraud ◽  
Marie‐France Portnoï ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Inverted Duplication ◽  
Neurodevelopmental Phenotype

scholarly journals Deciphering the Invdupdel(8p) Genotype–Phenotype Correlation: Our Opinion

2020 ◽  
Vol 10 (7) ◽  
pp. 451
Author(s):  
Manuela Lo Bianco ◽  
Davide Vecchio ◽  
Tiziana A. Timpanaro ◽  
Alessia Arena ◽  
Marina Macchiaiolo ◽  
...  
Keyword(s):  
Chromosomal Rearrangement ◽  
Scientific Literature ◽  
De Novo ◽  
Congenital Defects ◽  
Phenotype Correlation ◽  
Intermediate Area ◽  
Neurodevelopmental Delay ◽  
Skeletal Malformations ◽  
Genotype Phenotype Correlation ◽  
Inverted Duplication

The 8p inverted duplication/deletion is a rare chromosomal rearrangement clinically featuring neurodevelopmental delay, mild to severe cognitive impairment, heart congenital defects and brain abnormalities. Patients affected also present typical facial dysmorphisms and skeletal malformations, and it is thought that the composite clinical picture may fall into the chromosomal rearrangement architecture. With the major aim of better framing its related clinical and diagnostic paths, we describe a patient carrying a de novo invdupde[8p] whose clinical features have not been described so far. Hence, through an extensive genotype–phenotype correlation analysis and by reviewing the dedicated scientific literature, we compared our patient’s features with those reported in other patients, which allows us to place our proband’s expressiveness in an intermediate area, widening the scope of the already known invdupde[8p] genotype–phenotype relationship.

A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation

2013 ◽  
Author(s):  
Ponti Emanuela ◽  
Mihalich Alessandra ◽  
Broggi Francesca ◽  
Maria Di Blasio Anna ◽  
Luisa Bianchi Maria
Keyword(s):  
Osteogenesis Imperfecta ◽  
Familial Case ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Genotype‐phenotype correlation identified a novel SARS‐CoV‐2 variant possibly linked to severe disease

2021 ◽  
Author(s):  
Tom Loney ◽  
Hamda Khansaheb ◽  
Sathishkumar Ramaswamy ◽  
Divinlal Harilal ◽  
Zulfa Omar Deesi ◽  
...  
Keyword(s):  
Severe Disease ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
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