partial monosomy 5p
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2017 ◽  
Vol 15 (06) ◽  
pp. 332-337
Author(s):  
Yael Goldberg ◽  
Racheli Berger ◽  
Amir Peleg ◽  
Lena Sagi-Dain

AbstractTwo siblings with an unbalanced cytogenetic composition are described: a brother with partial trisomy 5p and distal 15q microdeletion, and a sister with partial monosomy 5p and distal 15q microduplication, resulting from a familial balanced translocation 46,XY; t(5;15)(p14.2;q26.2). To our best knowledge, there are no previous clinical and cytogenetic reports in the literature describing a family with concomitant presence of such a unique mirror combination. Clinical features of pure imbalances and the effects of their combination are discussed.


2008 ◽  
Vol 26 (3) ◽  
pp. 209-215 ◽  
Author(s):  
F. A. Beemer ◽  
H. F. de France ◽  
I. J. M. Rosina-Angelista ◽  
L. J. Gerards ◽  
B. P. Cats ◽  
...  

2008 ◽  
Vol 19 (4) ◽  
pp. 290-297 ◽  
Author(s):  
H. Seidel ◽  
K. Miller ◽  
M. Spoljars ◽  
S. Stengel-Rutkowski

1993 ◽  
Vol 38 (3) ◽  
pp. 319-328 ◽  
Author(s):  
Kazuhiro Ono ◽  
Yasushi Ohashi ◽  
Hisashi Nakano ◽  
Hirosuke Togashi ◽  
Yoji Kannari ◽  
...  

1989 ◽  
Vol 34 (2) ◽  
pp. 129-134 ◽  
Author(s):  
Tohru Sonoda ◽  
Kenji Kawaguchi ◽  
Ken-ichi Ohba ◽  
Harumichi Madokoro ◽  
Shozo Ohdo

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