scholarly journals De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome

2017 ◽  
Vol 173 (6) ◽  
pp. 1656-1662 ◽  
Author(s):  
Angela Sagar ◽  
Dalila Pinto ◽  
Fedra Najjar ◽  
Stephen J. Guter ◽  
Carol Macmillan ◽  
...  
Keyword(s):  
De Novo ◽  
Unbalanced Translocation ◽  
Overgrowth Syndrome

scholarly journals Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome

2001 ◽  
Vol 95 (3-4) ◽  
pp. 183-188 ◽  
Author(s):  
Q. Wang ◽  
A.A. Timur ◽  
P. Szafranski ◽  
A. Sadgephour ◽  
V. Jurecic ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Overgrowth Syndrome ◽  
De Novo Translocation

Characterization of a de novo unbalanced translocation t(14q18q) using microdissection and fluorescence in situ hybridization

1998 ◽  
Vol 75 (4) ◽  
pp. 409-413 ◽  
Author(s):  
John J.M. Engelen ◽  
Wil J.G. Loots ◽  
Jozefa C.M. Albrechts ◽  
Astrid S. Plomp ◽  
Syb B. van der Meer ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
De Novo ◽  
Unbalanced Translocation

Microscopic neuroblastoma in a fetus with a de novo unbalanced translocation 3;10

1994 ◽  
Vol 53 (1) ◽  
pp. 24-28 ◽  
Author(s):  
Faisal Qureshi ◽  
Suzanne M. Jacques ◽  
Mark P. Johnson ◽  
Avihai Reichler ◽  
Mark I. Evans
Keyword(s):  
De Novo ◽  
Unbalanced Translocation

Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq

2004 ◽  
Vol 126A (3) ◽  
pp. 303-307 ◽  
Author(s):  
Christel Thauvin-Robinet ◽  
Laurence Faivre ◽  
V�ronica Cusin ◽  
Philippe Khau Van Kien ◽  
Patrick Callier ◽  
...  
Keyword(s):  
De Novo ◽  
Unbalanced Translocation ◽  
Cloacal Exstrophy ◽  
Chromosome 9Q

De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features

2011 ◽  
Vol 59 (6) ◽  
pp. 309-313
Author(s):  
A. Debost-Legrand ◽  
Y. Capri ◽  
L. Gouas ◽  
C. Pebrel-Richard ◽  
L. Veronese ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Array Cgh ◽  
De Novo ◽  
Unbalanced Translocation ◽  
Dysmorphic Features

Novel Overgrowth Syndrome Phenotype Due to Recurrent De Novo PDGFRB Mutation

2015 ◽  
Vol 166 (2) ◽  
pp. 483-486 ◽  
Author(s):  
Toshiki Takenouchi ◽  
Yu Yamaguchi ◽  
Akiko Tanikawa ◽  
Rika Kosaki ◽  
Hideyuki Okano ◽  
...  
Keyword(s):  
De Novo ◽  
Overgrowth Syndrome

A case of an atypically large proximal 15q deletion as cause for Prader–Willi syndrome arising from a de novo unbalanced translocation

2013 ◽  
Vol 56 (9) ◽  
pp. 510-514 ◽  
Author(s):  
Scott E. Hickey ◽  
Devon Lamb Thrush ◽  
Lauren Walters-Sen ◽  
Shalini C. Reshmi ◽  
Caroline Astbury ◽  
...  
Keyword(s):  
De Novo ◽  
Prader Willi Syndrome ◽  
Unbalanced Translocation
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