A case of Angelman syndrome arising as a result of a de novo Robertsonian translocation.
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.
Ramsden
S
S
Department of Medical Genetics, St Mary's Hospital, Manchester, United Kingdom.
Gaunt
L
L
Seres-Santamaria
A
A
Clayton-Smith
J
J
D017204:Angelman Syndrome / Q000235:genetics*; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic