A t(7;12) Balanced Translocation With Breakpoints Overlapping Those of the Williams-Beuren and 12q14 Microdeletion Syndromes

作者：Gimelli Stefania^*; Chrast Jacqueline; Baban Anwar; Henrichsen Charlotte N; Lerone Margherita; Zuffardi Orsetta; Gimelli Giorgio; Reymond Alexandre

来源：American Journal of Medical Genetics, Part A, 2010, 152A(5): 1285-1294.

DOI：10.1002/ajmg.a.33365

• translocation
• Williams-Beuren syndrome
• 12q14 microdeletion syndrome
• position effect
• chromosome rearrangement

The molecular characterization of balanced chromosomal rear-rangements 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.

• 出版日期2010-5