TY - JOUR
T1 - A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes
AU - Gimelli, Stefania
AU - Chrast, Jacqueline
AU - Baban, Anwar
AU - Henrichsen, Charlotte N.
AU - Lerone, Margherita
AU - Zuffardi, Orsetta
AU - Gimelli, Giorgio
AU - Reymond, Alexandre
PY - 2010/5
Y1 - 2010/5
N2 - The molecular characterization of balanced chromosomal rearrangements have always been of advantage in identifying diseasecausing 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 dosagesensitive 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.
AB - The molecular characterization of balanced chromosomal rearrangements have always been of advantage in identifying diseasecausing 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 dosagesensitive 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.
KW - 12q14 microdeletion syndrome
KW - Chromosome rearrangement
KW - Position effect
KW - Translocation
KW - Williams-Beuren syndrome
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U2 - 10.1002/ajmg.a.33365
DO - 10.1002/ajmg.a.33365
M3 - Article
C2 - 20425838
AN - SCOPUS:77951763060
VL - 152
SP - 1285
EP - 1294
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 5
ER -