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Predisposition to autoimmune thyroiditis in ring chromosome 18 syndrome

✍ Scribed by Yoshimitsu Fukushima; Tetsuo Fukuda; Yoshikazu Kuroki; Norio Niikawa; Nobuo Matsuura; Yutaka Yamada; Atsushi Ieshima


Book ID
105332347
Publisher
Nature Publishing Group
Year
1984
Tongue
English
Weight
765 KB
Volume
29
Category
Article
ISSN
1435-232X

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Unbalanced translocation, t(18;21), dete
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We report on an 8-year-old girl with minor anomalies consistent with 18q -syndrome and mild developmental delay. Initially cytogenetics showed a terminal deletion of chromosome 21 with mosaicism for a small ring chromosome 21 as the only apparent karyotypic abnormality: mos 45,XX, -21/46,XX, + r(21)