Ramsden S, Gaunt L, Seres-Santamaria A, Clayton-Smith J
Department of Medical Genetics, St Mary's Hospital, Manchester, United Kingdom.
Acta Genet Med Gemellol (Roma). 1996;45(1-2):255-61. doi: 10.1017/s0001566000001410.
A male child has been identified with Angelman syndrome. He has been shown to carry a de novo Robertsonian 15/15 translocation where both chromosome 15s have been derived from the father. Consequently the disease in this instance is due to paternal uniparental disomy.
一名男童被诊断患有天使综合征。已发现他携带一种新发的罗伯逊易位15/15，两条15号染色体均来自父亲。因此，在这种情况下，该疾病是由于父源单亲二体性导致的。
