PMID- 9842993
OWN - NLM
STAT- MEDLINE
DCOM- 19990205
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 54
IP  - 5
DP  - 1998 Nov
TI  - Isolation of a 370 kb YAC fragment spanning a translocation breakpoint at 3p14.1 
      associated with holoprosencephaly.
PG  - 406-12
AB  - 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.
FAU - Petek, E
AU  - Petek E
AD  - Institute of Medical Biology and Human Genetics, University of Graz, Austria. 
      petek@bkfug.kfunigraz.ac.at
FAU - Kroisel, P M
AU  - Kroisel PM
FAU - Wagner, K
AU  - Wagner K
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Chromosomes, Artificial, Yeast
MH  - *Chromosomes, Human, Pair 3
MH  - Female
MH  - Holoprosencephaly/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - *Translocation, Genetic
EDAT- 1998/12/08 00:00
MHDA- 1998/12/08 00:01
CRDT- 1998/12/08 00:00
PHST- 1998/12/08 00:00 [pubmed]
PHST- 1998/12/08 00:01 [medline]
PHST- 1998/12/08 00:00 [entrez]
AID - 10.1111/j.1399-0004.1998.tb03754.x [doi]
PST - ppublish
SO  - Clin Genet. 1998 Nov;54(5):406-12. doi: 10.1111/j.1399-0004.1998.tb03754.x.