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Ring chromosome 18q and jumping translocation 18p in an adult male with hypergonadotrophic hypogonadism

✍ Scribed by Zahed, L. ;Oreibi, G. ;Azar, C. ;Salti, I.


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
113 KB
Volume
129A
Category
Article
ISSN
0148-7299

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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)