Large distal 5p deletion with hemifacial microsomia and absence of cri-du-chat syndrome

2010 ◽  
Vol 19 (1) ◽  
pp. 38-39 ◽  
Author(s):  
Jia-Chi Wang ◽  
Aneal Khan
Keyword(s):  
Hemifacial Microsomia ◽  
Cri Du Chat Syndrome ◽  
5P Deletion

scholarly journals Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Frenny Sheth ◽  
Naresh Gohel ◽  
Thomas Liehr ◽  
Olakanmi Akinde ◽  
Manisha Desai ◽  
...  
Keyword(s):  
Chromosomal Rearrangement ◽  
Unusual Case ◽  
Partial Trisomy ◽  
Unbalanced Translocation ◽  
Phenotypic Changes ◽  
Cri Du Chat Syndrome ◽  
5P Deletion

Here, we present a case with an unusual chromosomal rearrangement in a child with a predominant phenotype of high-pitched crying showing deletion encompassingCTNND2due to an unbalanced translocation of chromosomes 4 and 5. This rearrangement led to a duplication of ~35 Mb in 4qter which replaced 18 Mb genetic materials in 5pter. Even though, in this patient, there was no clinically obvious modification to the classical phenotypes of CdCS, and the influence of the 4q-duplication cannot be completely excluded in this case. However, the region 4q34.1–34.3 was previously reported as a region not leading to phenotypic changes if present in three copies, an observation which could possibly be supported by this case.Conclusion. This study showed that in a patient with an unbalanced translocation resulting in 5p deletion, the presence of partial trisomy of chromosome 4q could be clinically insignificant.

A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome

2011 ◽  
Vol 155 (2) ◽  
pp. 450-454 ◽  
Author(s):  
Carolina R. Lincoln-de-Carvalho ◽  
Fabíola M.P. Vicente ◽  
Társis A.P. Vieira ◽  
Maricilda P. de Mello ◽  
Antonia P. Marques-de-Faria
Keyword(s):  
De Novo ◽  
Cri Du Chat Syndrome ◽  
9P Duplication ◽  
5P Deletion

Narrative Discourse and Sociocognitive Abilities of a Child With Cri-du-Chat Syndrome

2013 ◽  
Vol 174 (1) ◽  
pp. 51-72 ◽  
Author(s):  
Stefania Albano ◽  
Laura Piccardi ◽  
Maria Rosa Pizzamiglio ◽  
Cristino Volpe ◽  
Simonetta D’Amico
Keyword(s):  
Narrative Discourse ◽  
Cri Du Chat Syndrome
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