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Autor:
Manisha Desai, Olawaleye Adeteye, Olakanmi Akinde, Jayesh Sheth, Frenny Sheth, Naresh Gohel, Thomas Liehr
Publikováno v:
Case Reports in Genetics, Vol 2012 (2012)
Case Reports in Genetics
Case Reports in Genetics
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