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

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 Detection of partial deletion and partial duplication of dystrophin gene in Japanese patients with Duchenne or Becker muscular dystrophy

1993 ◽  
Vol 38 (2) ◽  
pp. 169-176 ◽  
Author(s):  
Keiko Hiyama ◽  
Mieko Kodaira ◽  
Chiyoko Satoh ◽  
Takenori Karakawa ◽  
Hitoshi Kameo ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Dystrophin Gene ◽  
Japanese Patients ◽  
Becker Muscular Dystrophy ◽  
Partial Deletion ◽  
Partial Duplication

scholarly journals De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the Literature

2010 ◽  
Vol 13 (1) ◽  
pp. 35-37
Author(s):  
F Nasiri ◽  
F Mahjoubi ◽  
G Babamohammadi
Keyword(s):  
Case Report ◽  
Congenital Anomalies ◽  
Cytogenetic Analysis ◽  
De Novo ◽  
Chromosome 7 ◽  
Review Of The Literature ◽  
Multiple Congenital Anomalies ◽  
Upper Lip ◽  
Upper Eyelid ◽  
Partial Duplication

De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the LiteratureCytogenetic analysis of a 1-year-old boy with multiple congenital anomalies revealed partial duplication of the chromosome 7q21.2-q32 band region. His main features included: frontal bossing, small jaw, low-set ears, deep-set eyes, strabismus, drooping left upper eyelid, widely-spaced eyes, short nose, long philtrum, down-curved upper lip, camptodactyly and hypotonia.

Partial deletion of 14q and partial duplication of 14q in sibs: Testicular mosaicism for t(14q;14q) as a common mechanism

1989 ◽  
Vol 34 (4) ◽  
pp. 528-534 ◽  
Author(s):  
Christopher T. Masada ◽  
Ann Haskins Olney ◽  
Renee Fordyce ◽  
Warren G. Sanger
Keyword(s):  
Common Mechanism ◽  
Partial Deletion ◽  
Partial Duplication
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