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Isochromosome 20p associated with multiple congenital abnormalities

Fryer, Alan Ea; Ashworth, Michaelb; Hawe, Jedd; Pilling, Davidc; Pauling, Margarete; Maye, Unae


A second case of tetrasomy 20p due to an additional isochromosome 20p is reported. This resulted in a spontaneous intrauterine death with multiple congenital abnormalities. In keeping with the previous report, the foetus had poor ossification resulting in multiple long bone fractures.

Departments of aClinical Genetics


cRadiology, Royal Liverpool Children's Hospital

dDepartment of Obstetrics, Countess of Chester Hospital

eDepartment of Cytogenetics, Liverpool Women's Hospital

Correspondence and requests for reprints to Dr. Fryer, Department of Clinical Genetics, Royal Liverpool Children's Hospital (Alder Hey), Eaton Road, Liverpool L12 2AP, England

Tel: +44 151 252 5904; fax: +44 151 252 5951;


Received 31 August 2004 Accepted 5 September 2004

© 2005 Lippincott Williams & Wilkins, Inc.