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Document type:
journal article 
Author(s):
Fauth, C; Gribble, SM; Porter, KM; Codina-Pascual, M; Ng, BL; Kraus, J; Uhrig, S; Leifheit, J; Haaf, T; Fiegler, H; Carter, NP; Speicher, MR 
Title:
Micro-array analyses decipher exceptional complex familial chromosomal rearrangement. 
Abstract:
Recently there has been an increased interest in large-scale genomic variation and clinically in the consequences of haploinsufficiency of genomic segments or disruption of normal gene function by chromosome rearrangements. Here, we present an extraordinary case in which both mother and daughter presented with unexpected chromosomal rearrangement complexity, which we characterized with array-CGH, array painting and multicolor large insert clone hybridizations. We found the same 12 breakpoints in...    »
 
Journal title abbreviation:
Hum Genet 
Year:
2006 
Journal volume:
119 
Journal issue:
1-2 
Pages contribution:
145-53 
Language:
eng 
Print-ISSN:
0340-6717 
TUM Institution:
Institut für Humangenetik