First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature

2004 ◽  
Vol 108 (4) ◽  
pp. 278-282 ◽  
Author(s):  
M. Trimborn ◽  
A. Grueters ◽  
H. Neitzel ◽  
H. Tönnies
Keyword(s):  
Ring Chromosome ◽  
Review Of The Literature ◽  
Mild Phenotype ◽  
Molecular Cytogenetic ◽  
Molecular Cytogenetic Techniques

scholarly journals Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21

2011 ◽  
Vol 28 (7) ◽  
pp. 621-626
Author(s):  
Monica Martinez-Garcia ◽  
Eva Ainse ◽  
Maria García-Hoyos ◽  
Ana Bustamante ◽  
Rocio Cardero ◽  
...  
Keyword(s):  
Molecular Cytogenetic ◽  
Monosomy 21 ◽  
Molecular Cytogenetic Techniques

scholarly journals CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature

2003 ◽  
Vol 11 (6) ◽  
pp. 452-456 ◽  
Author(s):  
Céline Dupont ◽  
Eva Pipiras ◽  
Sandra Chantot-Bastaraud ◽  
Alain Verloes ◽  
Clarisse Baumann ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Ring Chromosome ◽  
Chromosome 17 ◽  
Review Of The Literature

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients

2004 ◽  
Vol 130A (4) ◽  
pp. 340-344 ◽  
Author(s):  
Z. Tümer ◽  
T.L. Harboe ◽  
E. Blennow ◽  
V.M. Kalscheuer ◽  
N. Tommerup ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 15 ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

scholarly journals Marfan Syndrome with Atypical Presentation: A Case Report

2014 ◽  
Vol 4 (2) ◽  
pp. 111-114
Author(s):  
Sharmin Mahbuba ◽  
Fauzia Mohsin ◽  
Rubaiya Islam ◽  
Tahmina Begum
Keyword(s):  
Case Report ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Connective Tissue Disorder ◽  
Atypical Presentation ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Excessive Sweating ◽  
Molecular Cytogenetic ◽  
Molecular Cytogenetic Techniques

Marfan syndrome is an inherited connective tissue disorder that is transmitted as an autosomal dominant trait. These cases can be diagnosed by molecular cytogenetic techniques. A modified Ghent criteria using systemic scoring system can also identify these cases in absence of molecular cytogenetic techniques.We report a case of a 6 year 5 month old boy who presented with the complaints of excessive sweating sinceinfancy and protrusion of both eye balls which was non progressive since early childhood. On examination, some skeletal features of Marfan syndrome was found and echocardiogram showed huge dilatation of root of aorta which helped in diagnosis by scoring system.Birdem Med J 2014; 4(2): 111-114

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