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

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 A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome

2004 ◽  
Vol 49 (8) ◽  
pp. 440-444 ◽  
Author(s):  
Naoki Harada ◽  
Remco Visser ◽  
Angie Dawson ◽  
Makoto Fukamachi ◽  
Mie Iwakoshi ◽  
...  
Keyword(s):  
Critical Region ◽  
Terminal Deletion ◽  
Deletion Syndrome

Submicroscopic Duplication of the Wolf-Hirschhorn Critical Region with a 4p Terminal Deletion

2009 ◽  
Vol 125 (2) ◽  
pp. 103-108 ◽  
Author(s):  
M. Roselló ◽  
S. Monfort ◽  
C. Orellana ◽  
I. Ferrer-Bolufer ◽  
R. Quiroga ◽  
...  
Keyword(s):  
Critical Region ◽  
Terminal Deletion

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 small terminal deletion 11q in a boy without Jacobsen syndrome: Narrowing the critical region for the 11q Jacobsen syndrome phenotype

2012 ◽  
Vol 158A (3) ◽  
pp. 680-684 ◽  
Author(s):  
Christina Evers ◽  
Johannes W. G. Janssen ◽  
Anna Jauch ◽  
Michael Bonin ◽  
Ute Moog
Keyword(s):  
Critical Region ◽  
Terminal Deletion ◽  
Jacobsen Syndrome

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

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
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