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

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome in an adolescent with complex chromosomal rearrangement and intellectual disability

2014 ◽  
Vol 164 (10) ◽  
pp. 2685-2688 ◽  
Author(s):  
Mariana Moysés Oliveira ◽  
Vera Ayres Meloni ◽  
Rosane Seidler Canonaco ◽  
Sylvia Satomi Takeno ◽  
Adriana Bortolai ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Chromosomal Rearrangement ◽  
Juvenile Polyposis ◽  
Complex Chromosomal Rearrangement

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
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