Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation

2008 ◽  
Vol 146A (21) ◽  
pp. 2785-2790 ◽  
Author(s):  
Emily Chen ◽  
Elise Obolensky ◽  
Katherine A. Rauen ◽  
Lisa G. Shaffer ◽  
Xu Li
Keyword(s):  
Hearing Loss ◽  
Mental Retardation ◽  
Array Cgh ◽  
De Novo ◽  
Choanal Atresia ◽  
Congenital Cataracts

Array-CGH characterization of a de novo t(X;Y)(p22;q11) in a female with short stature and mental retardation

Gene ◽  
2012 ◽  
Vol 504 (1) ◽  
pp. 107-110 ◽  
Author(s):  
Chiara Palka-Bayard-de-Volo ◽  
Stefania De Marco ◽  
Valentina Chiavaroli ◽  
Melissa Alfonsi ◽  
Giuseppe Calabrese ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Array Cgh ◽  
De Novo

scholarly journals Cytogenetic and Array-CGH Characterization of a Complex de novo Rearrangement Involving Duplication and Deletion of 9p and Clinical Findings in a 4-Month-Old Female

2009 ◽  
Vol 126 (3) ◽  
pp. 305-312 ◽  
Author(s):  
P.J. Hulick ◽  
K.M. Noonan ◽  
S. Kulkarni ◽  
D.J. Donovan ◽  
M. Listewnik ◽  
...  
Keyword(s):  
Array Cgh ◽  
De Novo ◽  
Clinical Findings

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

scholarly journals FISH and array CGH characterization of de novo derivative Y chromosome (Yq duplication and partial Yp deletion) in an azoospermic male

2015 ◽  
Vol 31 (2) ◽  
pp. 217-224 ◽  
Author(s):  
Ewa Wiland ◽  
Alexander N. Yatsenko ◽  
Archana Kishore ◽  
Halina Stanczak ◽  
Agata Zdarta ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Array Cgh ◽  
De Novo

Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism

2008 ◽  
Vol 122 (2) ◽  
pp. 181-187 ◽  
Author(s):  
S. Xu ◽  
J.C. Han ◽  
A. Morales ◽  
C.M. Menzie ◽  
K. Williams ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Array Cgh ◽  
Wagr Syndrome
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