Further heterogeneity in Silver–Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement

2021 ◽  
Author(s):  
Rebecca E. Brereton ◽  
Sarah L. Nickerson ◽  
Karen J. Woodward ◽  
Tracey Edwards ◽  
Soruba Sivamoorthy ◽  
...  
Keyword(s):  
Chromosomal Rearrangement ◽  
Complex Chromosomal Rearrangement ◽  
Silver Russell Syndrome

Prenatal diagnosis of a familial complex chromosomal rearrangement involving chromosomes 5, 10, 16 and 18

2002 ◽  
Vol 22 (2) ◽  
pp. 102-104 ◽  
Author(s):  
M. H. Lee ◽  
S. Y. Park ◽  
Y. M. Kim ◽  
J. M. Kim ◽  
J. Y. Han ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Rearrangement ◽  
Complex Chromosomal Rearrangement

Maternal complex chromosomal rearrangement leads toTCF12microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability

2014 ◽  
Vol 164 (6) ◽  
pp. 1530-1536 ◽  
Author(s):  
Pauline Le Tanno ◽  
Brice Poreau ◽  
Francoise Devillard ◽  
Gaëlle Vieville ◽  
Florence Amblard ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Chromosomal Rearrangement ◽  
Complex Chromosomal Rearrangement
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