Inverted duplication with terminal deletion of 5p and no cat-like cry

2008 ◽  
Vol 146A (9) ◽  
pp. 1173-1179 ◽  
Author(s):  
Jia-Chi Wang ◽  
Bradley P. Coe ◽  
Brenda Lomax ◽  
Patrick M. MacLeod ◽  
Malcolm I. Parslow ◽  
...  
Keyword(s):  
Terminal Deletion ◽  
Inverted Duplication

scholarly journals Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion

2007 ◽  
Vol 15 (5) ◽  
pp. 548-555 ◽  
Author(s):  
Jeroen Knijnenburg ◽  
Arie van Haeringen ◽  
Kerstin B M Hansson ◽  
Arjan Lankester ◽  
Margot J M Smit ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Terminal Deletion ◽  
Escape Mechanism ◽  
Inverted Duplication ◽  
Chromosome Formation

scholarly journals Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman

2019 ◽  
Vol 7 (9) ◽  
Author(s):  
Jianjiang Zhu ◽  
Hong Qi ◽  
Sha Cao ◽  
Lirong Cai ◽  
Xiaohui Wen ◽  
...  
Keyword(s):  
Pregnant Woman ◽  
De Novo ◽  
Terminal Deletion ◽  
Inverted Duplication

A prenatal case of inverted duplication with terminal deletion of 5p not including the cat-like cry critical region

2011 ◽  
Vol 155 (8) ◽  
pp. 2031-2034 ◽  
Author(s):  
A.L. Mosca ◽  
P. Callier ◽  
L. Faivre ◽  
N. Laurent ◽  
T. Rousseau ◽  
...  
Keyword(s):  
Critical Region ◽  
Terminal Deletion ◽  
Inverted Duplication

Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter

2007 ◽  
Vol 143A (20) ◽  
pp. 2417-2422 ◽  
Author(s):  
Nicolas Gruchy ◽  
Marie-Line Jacquemont ◽  
Stanislas Lyonnet ◽  
Philippe Labrune ◽  
Imen El Kamel ◽  
...  
Keyword(s):  
Terminal Deletion ◽  
Inverted Duplication

scholarly journals Corrigendum to “Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features”

2019 ◽  
Vol 2019 ◽  
pp. 1-1
Author(s):  
Jacquelyn D. Riley ◽  
Catherine M. Stefaniuk ◽  
Francine Erenberg ◽  
Angelika L. Erwin ◽  
Lauren Palange ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Features ◽  
Terminal Deletion ◽  
Chromosome 3P ◽  
Inverted Duplication

Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter

2009 ◽  
Vol 149A (11) ◽  
pp. 2507-2512 ◽  
Author(s):  
Carlos A. Tirado ◽  
Samuel Henderson ◽  
Naseem Uddin ◽  
Ewa Stewart ◽  
Santha Iyer ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Partial Trisomy ◽  
Terminal Deletion ◽  
Inverted Duplication

scholarly journals Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype

2005 ◽  
Vol 136A (1) ◽  
pp. 113-113
Author(s):  
Genesio Rita ◽  
De Brasi Daniele ◽  
Conti Anna ◽  
Borghese Annamaria ◽  
Di Micco Pasqua ◽  
...  
Keyword(s):  
Growth Failure ◽  
Terminal Deletion ◽  
Intrauterine Growth ◽  
Lethal Phenotype ◽  
Inverted Duplication

U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements

2009 ◽  
Vol 46 (10) ◽  
pp. 694-702 ◽  
Author(s):  
L R Rowe ◽  
J-Y Lee ◽  
L Rector ◽  
E B Kaminsky ◽  
A R Brothman ◽  
...  
Keyword(s):  
Terminal Deletion ◽  
Inverted Duplication
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