Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication ofSIX1,SIX6, andOTX2resulting from a complex chromosomal rearrangement

2008 ◽  
Vol 146A (19) ◽  
pp. 2480-2489 ◽  
Author(s):  
Zhishuo Ou ◽  
Donna M. Martin ◽  
Jirair K. Bedoyan ◽  
M. Lance Cooper ◽  
A. Craig Chinault ◽  
...  
Keyword(s):  
Chromosomal Rearrangement ◽  
Complex Chromosomal Rearrangement ◽  
Oculoauriculovertebral Spectrum

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

Prenatal Diagnosis of 2q32 Deletion Syndrome Characterized by Multiple Segmental Deletions and Complex Chromosomal Rearrangement Involving Chromosomes 2, 5 and 7

2012 ◽  
Vol 31 (3) ◽  
pp. 196-200 ◽  
Author(s):  
Heidi L. Thorson ◽  
Urvashi Surti ◽  
Malini Sathanoori ◽  
Sally J. Kochmar ◽  
Beth Torchia ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Rearrangement ◽  
Deletion Syndrome ◽  
Complex Chromosomal Rearrangement
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