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Titel:

Delineation of a 2q deletion in a girl with dysmorphic features and epilepsy.

Dokumenttyp:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Langer, S; Geigl, JB; Wagenstaller, J; Lederer, G; Hempel, M; Daumer-Haas, C; Leifheit, HJ; Speicher, MR
Abstract:
In recent years, the spectrum of available methods for the characterization of chromosomal aberrations has significantly increased. Micro-array technologies now allow the rapid fine mapping of small genomic imbalances. Here we used various technologies to characterize a de novo translocation t(2; 15) in a girl with dysmorphic features, severe developmental delay and frequent seizures. Multiplex-FISH (M-FISH) excluded the involvement of other chromosomes than chromosomes 2 and 15. We used an olig...     »
Zeitschriftentitel:
Am J Med Genet A
Jahr:
2006
Band / Volume:
140
Heft / Issue:
7
Seitenangaben Beitrag:
764-8
Sprache:
eng
Volltext / DOI:
doi:10.1002/ajmg.a.31141
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/16523518
Print-ISSN:
1552-4825
TUM Einrichtung:
Institut für Humangenetik
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