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Nonmosaic smallest duplication of 12q24.31‐qter: The first reported case
Author(s) -
Ireland Julie Won,
Jalal Syed M.,
McGrann Pamela S.,
Lindor Noralane M.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30098
Subject(s) - gene duplication , subtelomere , chromosome , biology , genetics , gene
Duplication of the terminal region of the long arm of chromosome 12 is not common. In 13 previous cases, duplication of this region was generally associated with deletions of the derivative chromosomes, larger sized duplications or mosaicism. We have studied a young man with a nonmosaic duplication of 12q24.31‐qter translocated to chromosome 5pter. This is the first reported case of pure subtle duplication involving less than two terminal subbands of 12q24.31 to qter. The origin of this genetic material was confirmed by whole chromosome paints and subtelomere specific FISH probes. As both the subtelomere signals for 5p and 12q were present in the der(5) chromosome, it is unlikely that there was any loss of unique DNA sequences from the terminal region of chromosome 5p. This case is compared with 13 other reported cases with a duplication of the 12q terminal segment. © 2004 Wiley‐Liss, Inc.