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Possible isochromosome 22 leading to trisomy 22
B F Manasse1, W M Pfaffenzeller, N Gurtunca
1Department of Human Genetics, The South African Institute for Medical Research and The University of the Witwatersrand, Johannesburg, South Africa.
American Journal of Medical Genetics
|January 9, 2001
Abstract:
We describe the first case of trisomy 22 resulting from a monocentric, possible isochromosome 22. The female infant had multiple anomalies including an abnormal face, ambiguous genitalia, and both ventricular and atrial septal defects. Survival was short.