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

scholarly journals The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency

2015 ◽  
Vol 35 (8) ◽  
pp. 761-768 ◽  
Author(s):  
Virgil A. S. H. Dalm ◽  
Gertjan J. A. Driessen ◽  
Barbara H. Barendregt ◽  
Petrus M. van Hagen ◽  
Mirjam van der Burg
Keyword(s):  
Primary Immunodeficiency ◽  
Terminal Deletion ◽  
Jacobsen Syndrome

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

Recurrent spontaneous intracranial hemorrhage in a patient with Jacobsen syndrome

2020 ◽  
pp. 10.1212/CPJ.0000000000000963
Author(s):  
Neil Suryadevara ◽  
Rashid Ahmed ◽  
Ahmed El Dokla
Keyword(s):  
Heart Defects ◽  
Terminal Deletion ◽  
Upper Lip ◽  
Platelet Dysfunction ◽  
Nasal Bridge ◽  
Jacobsen Syndrome ◽  
Spontaneous Intracranial Hemorrhage ◽  
Neonatal Thrombocytopenia ◽  
Broad Nasal Bridge ◽  
I Gene

Jacobsen syndrome (JS) is an 11q terminal deletion disorder. Affected individuals have developmental delay, cognitive impairment, heart defects, hypertelorism, broad nasal bridge, and a thin upper lip. Most patients with JS have Paris-Trousseau syndrome (PTS), which is characterized by neonatal thrombocytopenia and persistent platelet dysfunction due to 11q terminal deletion including FLI-I gene causing platelet alpha-granule abnormalities.1

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

Association of Jacobsen syndrome and bipolar affective disorder in a patient with a de novo 11q terminal deletion

2006 ◽  
Vol 140A (4) ◽  
pp. 378-382 ◽  
Author(s):  
D. Böhm ◽  
K. Hoffmann ◽  
F. Laccone ◽  
B. Wilken ◽  
P. Dechent ◽  
...  
Keyword(s):  
Affective Disorder ◽  
De Novo ◽  
Bipolar Affective Disorder ◽  
Terminal Deletion ◽  
Jacobsen Syndrome
Sign in / Sign up

Export Citation Format

Share Document