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  • Title: Stillborn baby with partial monosomy of the short arm of chromosome 5 and partial trisomy of the short arm of chromosome 20.
    Author: Okada M, Usami A, Okajima K, Yamada M, Yamaguchi Y, Umezaki I, Matsuda Y, Ohta H.
    Journal: Congenit Anom (Kyoto); 2005 Dec; 45(4):161-4. PubMed ID: 16359498.
    Abstract:
    A stillborn baby with multiple malformations, including cardiac defects and cerebellar hypoplasia, is described. The abnormal features were ascribed to an unbalanced chromosome translocation, resulting in a partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm of chromosome 20. A parental balanced translocation t(5; 20)(p13.3; p11.23) was identified. The present case is the first case in Japan of monosomy of the short arm of chromosome 5 and trisomy of the short arm of chromosome 20.
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