Monosomy 5p and trisomy 12p in a boy with familial balanced translocation

Clinical Dysmorphology
Pradeep C Vasudevan, Michael J Parker

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.

References

May 3, 1996·American Journal of Medical Genetics·A RauchR A Pfeiffer
May 3, 1996·American Journal of Medical Genetics·T L AllenP F Chance
Mar 10, 2001·Journal of Medical Genetics·P C MainardiF D Bricarelli
Aug 25, 2004·American Journal of Medical Genetics. Part a·Walter ZumkellerMarkus Stumm

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Citations

Dec 14, 2006·American Journal of Medical Genetics. Part a·A BattagliaJ C Carey

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