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Mosaic Ring Chromosome 18, Ring Chromosome 18 Duplication/Deletion and Disomy 18: Perinatal Findings and Molecular Cytogenetic Characterization by Fluorescence In Situ Hybridization and Array Comparative Genomic Hybridization

✍ Scribed by Chih-Ping Chen; Yung-Ting Kuo; Shuan-Pei Lin; Yi-Ning Su; Yann-Jang Chen; Rui-Yuan Hsueh; Yi-Hui Lin; Pei-Chen Wu; Chen-Chi Lee; Yu-Ting Chen; Wayseen Wang

Book ID: 117697484
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 588 KB
Volume: 49
Category: Article
ISSN: 1028-4559
DOI: 10.1016/s1028-4559(10)60069-1

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✍ McGinniss, Matthew J. ;Rosenberg, Carla ;Stetten, Gail ;Schinzel, Albert A. ;Bin 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 530 KB

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)