Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome
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 duplication of ~35 Mb in 4qter which replaced 1...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hindawi Limited
2012-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2012/153405 |