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Parental origin of a ring 13 chromosome in a female with multiple anomalies

Research paper by R. Ellen Magenis, Herman E. Wyandt, Kathleen M. Overton, Jean Macfarlane

Indexed on: 01 Jan '76Published on: 01 Jan '76Published in: Human Genetics



Abstract

A ring chromosome No. 13 was found in a 21-year-old female with multiple anomalies suggestive of 13q-syndrome. Chromosomes of the girl and her parents, studied by quinacrine staining, revealed the ring to be of paternal origin. Detailed study of the quinacrine banding pattern of the ring indicated loss of the most distal band of the long arm (13q34) and possible partial loss of the next adjacent long arm band (13q33). The short arm (13q11) was present but the stalk (13p12) and satellite (13p13) regions appeared to be missing.