Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation

2002 ◽  
Vol 111 (3) ◽  
pp. 319-323 ◽  
Author(s):  
Daniela Giardino ◽  
Palma Finelli ◽  
Silvia Russo ◽  
Giulietta Gottardi ◽  
Ornella Rodeschini ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 2 ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Another Small Supernumerary Marker Chromosome (sSMC) Derived from Chromosome 2: Towards a Genotype/Phenotype Correlation

2005 ◽  
Vol 53 (3) ◽  
pp. 367-370 ◽  
Author(s):  
Kristin Mrasek ◽  
Heike Starke ◽  
Thomas Liehr
Keyword(s):  
Marker Chromosome ◽  
Partial Trisomy ◽  
Chromosome 2 ◽  
Specific Probe ◽  
Phenotype Correlation ◽  
Small Supernumerary Marker Chromosome ◽  
Genotype Phenotype Correlation ◽  
Multicolor Fluorescence ◽  
Probe Set

Here we report a prenatally detected small supernumerary marker chromosome (sSMC) derived from chromosome 2 as demonstrated by cenM-FISH (centromere-specific multicolor fluorescence in situ hybridization). By application of a recently described subcentromere-specific probe set (subcenM-FISH) for chromosome 2, the presence of a small partial trisomy due to a karyotype 47,XX, + r(2)(::p11.1->q11.2::) was demonstrated. Including this case, a total of 11 patients with sSMC(2) are described throughout the literature. Based on that data, a first genotype/phenotype correlation according to the size and structure of the marker is suggested.

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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