Parental origin of a ring 13 chromosome in a female with multiple anomalies |
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| Authors: | R Ellen Magenis Herman E Wyandt Kathleen M Overton Jean Macfarlane |
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| Institution: | (1) Child Development and Rehabilitation Center, Division of Medical Genetics, University of Oregon Health Sciences Center, Portland, Oregon;(2) Department of Pediatrics, University of Oregon Health Sciences Center, Portland, Oregon |
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| Abstract: | Summary 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.This work was supported in part by NIH grants HD 07997; Maternal and Child Health Services 970; HD 08236; CA 16747; by grants from the Medical Research Foundation of Oregon and by a Basil O'Connor Starter Research Grant. |
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