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Article

Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20.

American journal of medical genetics. Part A - 1 Feb 2010

Guediche N, Brisset S, Benichou J-J, Guérin N, Mabboux P, Maurin M-L, Bas C, Laroudie M, Picone O, Goldszmidt D, Prévot S, Labrune P, Tachdjian G

Abstract excerpt

The occurrence of an additional ring chromosome 20 is a rare chromosome abnormality, and no common phenotype has been yet described. We report on two new patients presenting with a supernumerary ring chromosome 20 both prenatally diagnosed. The first presented with intrauterine growth retardation and some craniofacial dysmorphism, and the second case had a normal phenotype except for obesity. Conventional...

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Identifiers

PMID: 20101685
DOI: 10.1002/ajmg.a.33250

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