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12q14 microdeletion syndrome and short stature with or without relative macrocephaly

✍ Scribed by Toshiki Takenouchi; Keisuke Enomoto; Toshihiko Nishida; Chiharu Torii; Tadaharu Okazaki; Takao Takahashi; Kenjiro Kosaki


Book ID
115549368
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
126 KB
Volume
158A
Category
Article
ISSN
1552-4825

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A t(7;12) balanced translocation with br
✍ Stefania Gimelli; Jacqueline Chrast; Anwar Baban; Charlotte N. Henrichsen; Margh πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 564 KB

## Abstract The molecular characterization of balanced chromosomal rearrangements have always been of advantage in identifying disease‐causing genes. Here, we describe the breakpoint mapping of a de novo balanced translocation t(7;12)(q11.22;q14.2) in a patient presenting with a failure to thrive a