Interstitial Deletion of the Long Arm of Chromosome 8 without Langer-Giedion Syndrome |
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| Authors: | Satoru Kazukawa M.D. Masaomi Endo M.D. Tsutomu Fujii M.D. Ariyuki Hori M.D. Kiyomi Yamada D.Sc. Toshikazu Yamaguchi Tadashi Aizawa Shoji Maruyama |
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| Affiliation: | Department of Neuropsychiatry, Toyama Medical and Pharmaceutical University Faculty of Medicine, Toyama;Division of Genetics, Clinical Research Institute, National Medical Center Hospital, Tokyo;Sogo Biomedical Laboratories, Tokyo |
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| Abstract: | ![]()
Abstract: A case of interstitial deletion of the long arm of chromosome 8 is reported. A chromosome analysis by a high resolution banding revealed the abnormal karyotype, 46, XY, del (8) (qll.2ql3). Although some reports describe an association of 8q deletion with the Langer-Giedion syndrome, this patient did not have the typical features of this syndrome. It was noted that the patient had amino aciduria, EEG and ECG abnormalities together with other pathological findings. |
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| Keywords: | amino acid chromosome 8 deletion of long arm electroencephalography Langer-Giedion syndrome mental retardation |
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