Gain of chromosome 4qter and loss of 5pter: an unusual case with features of cri du chat syndrome
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Here, we present a case with an unusual chromosomal rearrangement in a child with a predominant phenotype of high-pitched crying showing deletion encompassing CTNND2 due to an unbalanced translocation of chromosomes 4 and 5. This rearrangement led to a duplica... ...
