De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p

1994 ◽  
Vol 53 (3) ◽  
pp. 216-221 ◽  
Author(s):  
Janet M. Legare ◽  
Gurbax S. Sekhon ◽  
Renata Laxova
Keyword(s):  
De Novo ◽  
Partial Deletion ◽  
Partial Duplication ◽  
De Novo Translocation

A patient with de-novo partial deletion of Xp (p11.4–pter) and partial duplication of 22q (q11.2–qter)

2008 ◽  
Vol 17 (1) ◽  
pp. 23-26
Author(s):  
Christine M. Armour ◽  
Jean McGowan-Jordan ◽  
Sarah E. Lawrence ◽  
Amélie Bouchard ◽  
Mark Basik ◽  
...  
Keyword(s):  
De Novo ◽  
Partial Deletion ◽  
Partial Duplication

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

De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder

2004 ◽  
Vol 129A (1) ◽  
pp. 98-100 ◽  
Author(s):  
Peter M. Kroisel ◽  
Christian Windpassinger ◽  
Klaus Wagner ◽  
Erwin Petek ◽  
John B. Vincent ◽  
...  
Keyword(s):  
Autistic Disorder ◽  
De Novo ◽  
De Novo Translocation

De novo 13q partial duplication identified by cytogenetic, biochemical and molecular approaches

2008 ◽  
Vol 40 (6) ◽  
pp. 417-422 ◽  
Author(s):  
S. Schwartz ◽  
M. Harris ◽  
R. Ehrenpreis ◽  
A. Zaslav ◽  
L. J. Raffel ◽  
...  
Keyword(s):  
De Novo ◽  
Partial Duplication ◽  
Molecular Approaches

De novo partial duplication of long arm of chromosome 13: dup(13)(q12?q14)

2000 ◽  
Vol 92 (4) ◽  
pp. 296-297 ◽  
Author(s):  
Robert Hermann ◽  
G. Solt�sz ◽  
E. Morava ◽  
G. Kosztol�nyi ◽  
M. Czak�
Keyword(s):  
De Novo ◽  
Partial Duplication ◽  
Chromosome 13

De novo partial duplication of chromosome 7p in a male with autistic disorder

2001 ◽  
Vol 105 (3) ◽  
pp. 222-225 ◽  
Author(s):  
C.M. Wolpert ◽  
S.L. Donnelly ◽  
M.L. Cuccaro ◽  
D.J. Hedges ◽  
C.P. Poole ◽  
...  
Keyword(s):  
Autistic Disorder ◽  
De Novo ◽  
Partial Duplication

scholarly journals Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing

Genomics ◽  
2019 ◽  
Vol 111 (5) ◽  
pp. 1108-1114 ◽  
Author(s):  
Usha R. Dutta ◽  
Sudha N. Rao ◽  
Vijaya Kumar Pidugu ◽  
Vineeth V.S. ◽  
Amrita Bhattacherjee ◽  
...  
Keyword(s):  
Positional Cloning ◽  
De Novo ◽  
Long Read ◽  
Breakpoint Mapping ◽  
De Novo Translocation

Tuberous sclerosis in a child with de novo translocation t(3; 12) (p26.3; q23.3)

2008 ◽  
Vol 40 (4) ◽  
pp. 326-328 ◽  
Author(s):  
R. Fahsold ◽  
H.-D. Rott ◽  
U. Claussen ◽  
B. Schmalenberger
Keyword(s):  
Tuberous Sclerosis ◽  
De Novo ◽  
De Novo Translocation

De novo translocation t(5;9)(q11.2;p22) associated with hydrops fetalis and cystic hygroma

2012 ◽  
Vol 31 (2) ◽  
pp. 39-42 ◽  
Author(s):  
Kristen Eisbrenner ◽  
Thora S. Steffensen ◽  
Valerie E. Whiteman ◽  
Enid Gilbert-Barness
Keyword(s):  
De Novo ◽  
Cystic Hygroma ◽  
Hydrops Fetalis ◽  
De Novo Translocation
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