ring chromosome 7
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Author(s):  
Simon F. Roy ◽  
Boris C. Bastian ◽  
Sheilagh Maguiness ◽  
Alessio Giubellino ◽  
Swapna Vemula ◽  
...  

2018 ◽  
Vol 228-229 ◽  
pp. 17-20 ◽  
Author(s):  
Hemani Jain ◽  
Dhanlaxmi Shetty ◽  
Hasmukh Jain ◽  
Manju Sengar ◽  
Navin Khattry ◽  
...  

2018 ◽  
Vol 224-225 ◽  
pp. 67
Author(s):  
Prabakaran Paulraj ◽  
Srinivas Tantravahi ◽  
Anurag Reddy ◽  
Maria C. Longhurst ◽  
Erica F. Andersen ◽  
...  

2017 ◽  
Vol 1 (16) ◽  
pp. 1238-1242
Author(s):  
Ira J. Miller ◽  
Wei-Tong Hsu ◽  
James Weisberger ◽  
Parameswaran Venugopal

Key Points A man with cytopenias, dysplasia, excess blasts, P53 and RUNX1 mutations, and ring chromosome 7 recovered after stopping lenalidomide.


2014 ◽  
Vol 164 (7) ◽  
pp. 1765-1769 ◽  
Author(s):  
Consuelo Salas-Labadía ◽  
David E. Cervantes-Barragán ◽  
Roberto Cruz-Alcívar ◽  
Robert D. Daber ◽  
Laura K. Conlin ◽  
...  

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Lindsay B. Henderson ◽  
Virginia L. Corson ◽  
Daniel O. Saul ◽  
Cynthia Anderson ◽  
Sarah Millard ◽  
...  

Holoprosencephaly (HPE) is a developmental defect in humans in which the forebrain fails to completely separate into two hemispheres. We describe a 12 3/7-week-old fetus found on ultrasound evaluation to have features consistent with HPE, including a single anterior ventricle, fused thalami, and a flattened profile. Cytogenetic analysis of chorionic villi revealed a ring chromosome 7 [r(7)]. This uncommon finding has been associated with growth delay, microcephaly, and dermatologic abnormalities. However, both the clinical features and the extent of cytogenetic imbalance of chromosome 7 are variable, and few reported cases of r(7) have been molecularly studied. To our knowledge, this is the first report of a prenatally identified r(7), molecularly characterized using array comparative genomic hybridization.


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