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  • Title: Monosomy 5p and trisomy 12p in a boy with familial balanced translocation.
    Author: Vasudevan PC, Parker MJ.
    Journal: Clin Dysmorphol; 2006 Apr; 15(2):85-7. PubMed ID: 16531734.
    Abstract:
    We report on a boy with monosomy 5p involving the Cri-du-Chat critical region and trisomy 12p detected by subtelomere study. Familial studies showed that the boy's mother and paternal grandfather had a balanced reciprocal translocation between the short arm of chromosomes 5 and 12. The boy had an overlap of features of both chromosomal conditions, even though the Cri-du-Chat phenotype was more prominent.
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