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 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

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

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

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

Misophonia: An Evidence-Based Case Report

2020 ◽  
Vol 29 (4) ◽  
pp. 685-690
Author(s):  
C. S. Vanaja ◽  
Miriam Soni Abigail
Keyword(s):  
Quality Of Life ◽  
Case Report ◽  
Case History ◽  
Pure Tone ◽  
Physiological Responses ◽  
Evidence Based ◽  
Management Option ◽  
Pure Tone Audiogram

Purpose Misophonia is a sound tolerance disorder condition in certain sounds that trigger intense emotional or physiological responses. While some persons may experience misophonia, a few patients suffer from misophonia. However, there is a dearth of literature on audiological assessment and management of persons with misophonia. The purpose of this report is to discuss the assessment of misophonia and highlight the management option that helped a patient with misophonia. Method A case study of a 26-year-old woman with the complaint of decreased tolerance to specific sounds affecting quality of life is reported. Audiological assessment differentiated misophonia from hyperacusis. Management included retraining counseling as well as desensitization and habituation therapy based on the principles described by P. J. Jastreboff and Jastreboff (2014). A misophonia questionnaire was administered at regular intervals to monitor the effectiveness of therapy. Results A detailed case history and audiological evaluations including pure-tone audiogram and Johnson Hyperacusis Index revealed the presence of misophonia. The patient benefitted from intervention, and the scores of the misophonia questionnaire indicated a decrease in the severity of the problem. Conclusions It is important to differentially diagnose misophonia and hyperacusis in persons with sound tolerance disorders. Retraining counseling as well as desensitization and habituation therapy can help patients who suffer from misophonia.

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