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Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature

โœ Scribed by I. Feenstra; D.A. Koolen; J. Van der Pas; B.C.J. Hamel; H. Mieloo; D.F.C.M. Smeets; C.M.A Van Ravenswaaij


Book ID
116432980
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
326 KB
Volume
49
Category
Article
ISSN
1769-7212

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Unbalanced translocation 46,xy,โˆ’15,+der(
โœ Van Hove, Johan L. K. ;McConkie-Rosell, Allyn ;Chen, Yuan-Tsong ;Iafolla, A. Kim ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 651 KB

We presenta boy with a rare unbalanced translocation 46,XY, -15, + der(22),t(l5;22)(ql3;qll) pat. Previous reports of similar chromosome findings mention only the Prader-Willi phenotype. At birth, his manifestations included severe hypotonia and lethargy, (typical of deletion of 15ptewq13); hypertel