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Hypothyroidism and Levothyroxine-Responsive Liver Dysfunction in a Patient with Ring Chromosome 18 Syndrome

✍ Scribed by Ohkubo, Kazuhiro; Ihara, Kenji; Ohga, Shouichi; Ishimura, Masataka; Hara, Toshiro


Book ID
121435763
Publisher
Mary Ann Liebert
Year
2012
Tongue
English
Weight
143 KB
Volume
22
Category
Article
ISSN
1050-7256

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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)