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Interstitial Deletion of the Long Arm of Chromosome 8 without Langer‐Giedion Syndrome
Author(s) -
Kazukawa Satoru,
Endo Masaomi,
Fujii Tsutomu,
Hori Ariyuki,
Yamada Kiyomi,
Yamaguchi Toshikazu,
Aizawa Tadashi,
Maruyama Shoji
Publication year - 1986
Publication title -
psychiatry and clinical neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.609
H-Index - 74
eISSN - 1440-1819
pISSN - 1323-1316
DOI - 10.1111/j.1440-1819.1986.tb03144.x
Subject(s) - karyotype , pathological , long arm , chromosome , chromosome analysis , genetics , deletion syndrome , medicine , pathology , biology , phenotype , gene
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.