Medizinische Universität Graz - Research portal
Selected Publication:
Petek, E; Kroisel, PM; Wagner, K.
Isolation of a 370 kb YAC fragment spanning a translocation breakpoint at 3p14.1 associated with holoprosencephaly.
Clin Genet. 1998; 54(5):406-412
Doi: 10.1111/j.1399-0004.1998.tb03754.x
(- Case Report)
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- Leading authors Med Uni Graz
- Petek Erwin
- Co-authors Med Uni Graz
- Kroisel Peter
- Wagner Klaus
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- Abstract:
- Holoprosencephaly (HPE) is a common developmental defect involving the brain and face. HPE is extremely heterogeneous, some cases being associated with structural anomalies of the short arm of chromosome 3. For a detailed characterization of a t(3;19)(p14.1;p13.1) breakpoint associated with HPE, we performed fluorescence in situ hybridization (FISH) analysis using yeast artificial chromosomes (YACs) mapped to the short arm of chromosome 3 from the Le Centre d'Etude du Polymorphisme Humain (CEPH) library. Three YACs mapped proximal, and one was located distal to the described breakpoint on chromosome 3. One of the chromosome 3 'Mega-YACs' spanned the translocation breakpoint. From this chimeric YAC we generated a site specific probe of about 370 kb by digestion of the YAC-DNA, which will be assessed for gene alterations that could underlie HPE in this patient.
- Find related publications in this database (using NLM MeSH Indexing)
- Chromosomes, Artificial, Yeast -
- Chromosomes, Human, Pair 3 -
- Female -
- Holoprosencephaly - genetics
- Humans - genetics
- In Situ Hybridization, Fluorescence - genetics
- Infant, Newborn - genetics
- Translocation, Genetic - genetics
- Find related publications in this database (Keywords)
- Chromosome 3
- Holoprosencephaly
- Translocation Breakpoint
- Yeast Artificial Chromosome