Molecular cytogenetic analysis of a Xp21.3-pter deletion in a family with normal and short stature

2002 ◽  
Vol 61 (2) ◽  
pp. 163-165 ◽  
Author(s):  
G Tachdjian ◽  
F Perreaux ◽  
A Aboura ◽  
P Chevalier ◽  
M-F Portnoi ◽  
...  
2012 ◽  
Vol 2012 ◽  
pp. 1-5
Author(s):  
Usha R. Dutta ◽  
Vijaya Kumar Pidugu ◽  
Ashwin Dalal

We report a 16-year-old girl who presented with short stature and amenorrhea. Initially the cytogenetic analysis showed the presence of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19. Subsequent molecular cytogenetic analysis by fluorescencein situhybridization (FISH) using whole chromosome paints, centromeric probes, as well as gene specific probes confirmed the dicentric nature of the derivative chromosome and indicated that the rearrangement involved the short arms of both of these chromosomes. Furthermore, we also determined that the chromosome 19p13.3 breakpoint occurred within the terminal 1 Mb region. This is the first report of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19 with the karyotype determined as 45,XX,dic(14;19)(p11.2;p13.3)[35]/46,XX[15], and we suggest that the chromosome rearrangement could be the cause of clinical phenotype.


2010 ◽  
Vol 163 (2) ◽  
pp. 344-352 ◽  
Author(s):  
Yasuhito Fujino ◽  
Hitoshi Satoh ◽  
Koichi Ohno ◽  
Hajime Tsujimoto

2005 ◽  
Vol 25 (2) ◽  
pp. 112-118 ◽  
Author(s):  
Chih-Ping Chen ◽  
Shuan-Pei Lin ◽  
Chyi-Chyang Lin ◽  
Yueh-Chun Li ◽  
Schu-Rern Chern ◽  
...  

Author(s):  
Kai Wang ◽  
Hon Cheng ◽  
Jinlei Han ◽  
Ayman Esh ◽  
Jiayong Liu ◽  
...  

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Yufan Cheng ◽  
Qianming Bai ◽  
Bin Wu ◽  
Bin Chang ◽  
Rui Bi ◽  
...  

2008 ◽  
Vol 23 (11) ◽  
pp. 2596-2608 ◽  
Author(s):  
E. Fragouli ◽  
M. Lenzi ◽  
R. Ross ◽  
M. Katz-Jaffe ◽  
W.B. Schoolcraft ◽  
...  

2003 ◽  
Vol 142 (1) ◽  
pp. 65-69 ◽  
Author(s):  
Bo Hong ◽  
Zhong Chen ◽  
Cheryl M Coffin ◽  
Richard Lemons ◽  
Bonnie Issa ◽  
...  

2013 ◽  
Vol 6 (1) ◽  
pp. 62 ◽  
Author(s):  
Artur Beke ◽  
Henriett Piko ◽  
Iren Haltrich ◽  
Judit Csomor ◽  
Andras Matolcsy ◽  
...  

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