Genotype/phenotype correlation in a patient with partial monosomy 15 and partial trisomy 14

2004 ◽  
Vol 108 (4) ◽  
pp. 283-286 ◽  
Author(s):  
M. Volleth ◽  
M. Stumm ◽  
J. Bürger ◽  
P. Muschke ◽  
P. Wieacker
Keyword(s):  
Partial Trisomy ◽  
Phenotype Correlation ◽  
Partial Monosomy ◽  
Genotype Phenotype Correlation

Genotype-phenotype correlation and pregnancy outcomes of partial trisomy 14q: A systematic review

2016 ◽  
Vol 170 (9) ◽  
pp. 2365-2371 ◽  
Author(s):  
Julia Bregand-White ◽  
Devereux N. Saller ◽  
Michele Clemens ◽  
Urvashi Surti ◽  
Svetlana A. Yatsenko ◽  
...  
Keyword(s):  
Systematic Review ◽  
Pregnancy Outcomes ◽  
Partial Trisomy ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Genotype-phenotype correlation for congenital heart disease in Down syndrome through analysis of partial trisomy 21 cases

Genomics ◽  
2017 ◽  
Vol 109 (5-6) ◽  
pp. 391-400 ◽  
Author(s):  
Maria Chiara Pelleri ◽  
Elena Gennari ◽  
Chiara Locatelli ◽  
Allison Piovesan ◽  
Maria Caracausi ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Partial Trisomy ◽  
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
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