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Title:

Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.

Document type:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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
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
Fulltext / DOI:
doi:10.1007/s00439-005-0103-z
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/16395598
Print-ISSN:
0340-6717
TUM Institution:
Institut für Humangenetik
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