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Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes
American Journal of Medical Genetics, 10/23/09
Vera–Carbonell A et al. – The patient showed phenotypic characteristics of both syndromes and died at 3 months of age as a result of cardiorespiratory failure, probably associated with the clinical severity of the trisomy 5p syndrome. The authors propose a potential causative mechanism for this rearrangement.
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