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Three cases of dup(10p)/del(10q) syndrome resulting from maternal pericentric inversion

โœ Scribed by Kulharya, Anita S. ;Schneider, Nancy R. ;Wilson, Golder N.


Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
286 KB
Volume
47
Category
Article
ISSN
0148-7299

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We report a rare case of duplication for 7q22 โ†’ 7qter and deletion for 7p22 โ†’ 7pter, resulting from a meiotic recombination of a paternal pericentric inversion, inv(7)(p22q22). The newborn boy had the 7q trisomy syndrome. In addition, the diagnosis of chondrodysplasia punctata was made from lumbar a