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Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion

✍ Scribed by Carla S. D'Angelo; Mariana A. de Oliveira; Claudia I.E. de Castro; Celia P. Koiffmann


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
222 KB
Volume
152A
Category
Article
ISSN
1552-4825

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A family is described in which a mother and two of her children were mosaic for a small supernumerary ring chromosome. As the origin of the ring chromosome could not be determined by routine cytogenetic studies, fluorescent in situ hybridization was performed, which indicated that the ring chromosom