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A t(7;12) balanced translocation with breakpoints overlapping those of the Williams–Beuren and 12q14 microdeletion syndromes
Author(s) -
Gimelli Stefania,
Chrast Jacqueline,
Baban Anwar,
Henrichsen Charlotte N.,
Lerone Margherita,
Zuffardi Orsetta,
Gimelli Giorgio,
Reymond Alexandre
Publication year - 2010
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.33365
Subject(s) - breakpoint , chromosomal translocation , biology , genetics , gene , phenotype
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 associated with moderate mental retardation, facial anomalies, and chronic constipation. The localization of the breakpoints and the co‐occurrence of Williams–Beuren syndrome and 12q14 microdeletion syndrome phenotypes suggested that the expression of some of the dosage‐sensitive genes of these two segmental aneuploidies were modified in cells of the proposita. However, we were unable to identify chromosomes 7 and/or 12‐mapping genes that showed disturbed expression in the lymphoblastoids of the proposita. This case showed that position‐effect might operate in some tissues, but not in others. It also illustrates the overlap of phenotypes presented by patients with the recently described 12q14 structural rearrangements. © 2010 Wiley‐Liss, Inc.