Hexasomy of the Prader–Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: Case report

2011 ◽  
Vol 54 (4) ◽  
pp. e446-e450 ◽  
Author(s):  
Lilia Kraoua ◽  
Myriam Chaabouni ◽  
Elisabeth Ewers ◽  
Imen Chelly ◽  
Ines Ouertani ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region ◽  
Oca2 Gene

scholarly journals Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum

2009 ◽  
Vol 2009 (jan21 1) ◽  
pp. bcr0820080665-bcr0820080665
Author(s):  
C Orellana ◽  
J. Bernabeu ◽  
S. Monfort ◽  
M. Rosello ◽  
J. S. Oltra ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region ◽  
Phenotypic Spectrum

Microdeletion 4p16.3 that includes Wolf-Hirschhorn syndrome critical region – A case report

2008 ◽  
Vol 39 (05) ◽  
Author(s):  
KS Brocke ◽  
K Hackmann ◽  
S Tinschert ◽  
K Prokop ◽  
C Ikonomidou ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region

scholarly journals Rare de novo inversion-duplication case with pure 3qter duplication syndrome including an overlap of the dup(3q) critical region: A case report

2017 ◽  
Vol 13 (6) ◽  
pp. 3494-3496 ◽  
Author(s):  
George Imataka ◽  
Yoshiyuki Watabe ◽  
Sayuri Kajitani ◽  
Shun Watanabe ◽  
Junko Ichikawa ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region ◽  
De Novo ◽  
Duplication Syndrome

scholarly journals Case Report Smallest critical region for microcephaly in a patient with mosaic ring chromosome 13

2013 ◽  
Vol 12 (2) ◽  
pp. 1311-1317 ◽  
Author(s):  
P.-H. Su ◽  
C.-P. Chen ◽  
Y.-N. Su ◽  
S.-J. Chen ◽  
L.-L. Lin ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region ◽  
Ring Chromosome ◽  
Chromosome 13

Partial Duplication of 18q Including a Distal Critical Region for Edwards Syndrome in a Patient with Normal Phenotype and Oligoasthenospermia: Case Report

2011 ◽  
Vol 133 (1) ◽  
pp. 78-83 ◽  
Author(s):  
R. Quiroga ◽  
S. Monfort ◽  
S. Oltra ◽  
I. Ferrer-Bolufer ◽  
M. Roselló ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region ◽  
Partial Duplication ◽  
Normal Phenotype ◽  
Edwards Syndrome

Duplication 12p and Pallister-Killian syndrome: A case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region

2012 ◽  
Vol 158A (12) ◽  
pp. 3033-3045 ◽  
Author(s):  
Kosuke Izumi ◽  
Laura K. Conlin ◽  
Donna Berrodin ◽  
Christopher Fincher ◽  
Alisha Wilkens ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region ◽  
Review Of The Literature

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum

2007 ◽  
Vol 45 (3) ◽  
pp. 187-189 ◽  
Author(s):  
C Orellana ◽  
J Bernabeu ◽  
S Monfort ◽  
M Rosello ◽  
S Oltra ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region ◽  
Phenotypic Spectrum

scholarly journals Familial Translocation t(2;4) (q37.3;p16.3), Resulting in a Partial Trisomy of 2q (or 4p) and a Partial Monosomy of 4p (or 2q), Causes Dysplasia

2021 ◽  
Vol 12 ◽  
Author(s):  
Jian Wang ◽  
Shiyuan Zhou ◽  
Fei He ◽  
Xuelian Zhang ◽  
Jianqi Lu ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Developmental Delay ◽  
Critical Region ◽  
Congenital Anomalies ◽  
Clinical Symptoms ◽  
Partial Trisomy ◽  
Multiple Congenital Anomalies ◽  
Microdeletion Syndrome ◽  
Partial Monosomy

Background: Wolf-Hirschhorn syndrome, a well-known contiguous microdeletion syndrome, is caused by deletions on chromosome 4p. While the clinical symptoms and the critical region for this disorder have been identified based on genotype-phenotype correlations, duplications in this region have been infrequently reported.Conclusion: Our case report shows that both deletions and duplications of the Wolf-Hirshhorn critical region cause intellectual disability/developmental delay and multiple congenital anomalies.

scholarly journals Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum

2009 ◽  
Vol 2009 (jul05 1) ◽  
pp. bcr0620091996-bcr0620091996
Author(s):  
C Orellana ◽  
J Bernabeu ◽  
S Monfort ◽  
M Rosello ◽  
S Oltra ◽  
...  
Keyword(s):  
Case Report ◽  
Critical Region ◽  
Phenotypic Spectrum
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