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Myotonic dystrophy and autosomal balanced translocation t(2; 20) (p21; q11)

โœ Scribed by J. P. Fryns; A. Kleczkowska; I. Bulcke; H. van den Berghe

Book ID
119981457
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
162 KB
Volume
25
Category
Article
ISSN
0009-9163

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Partial trisomy 2q and familial transloc
Partial trisomy 2q and familial translocation t(2;18)(q31;p11)
โœ L. Wisniewski; R. Chan; J. V. Higgins ๐Ÿ“‚ Article ๐Ÿ“… 1978 ๐Ÿ› Springer ๐ŸŒ English โš– 329 KB

This report describes a malformed infant with distal 2q trisomy/distal 18p monosomy due to adjacent segregation of a familial t(2;18). The rearrangement was present in four generations, and linkage studies were performed.