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Titel:

Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.

Dokumenttyp:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
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...     »
Zeitschriftentitel:
Hum Genet
Jahr:
2006
Band / Volume:
119
Heft / Issue:
1-2
Seitenangaben Beitrag:
145-53
Sprache:
eng
Volltext / DOI:
doi:10.1007/s00439-005-0103-z
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/16395598
Print-ISSN:
0340-6717
TUM Einrichtung:
Institut für Humangenetik
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