PMID- 11280946
OWN - NLM
STAT- MEDLINE
DCOM- 20010809
LR  - 20220210
IS  - 1098-3600 (Print)
IS  - 1098-3600 (Linking)
VI  - 3
IP  - 2
DP  - 2001 Mar-Apr
TI  - A diagnostic approach to identifying submicroscopic 7p21 deletions in 
      Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive 
      Southern blot analysis.
PG  - 102-8
AB  - PURPOSE: To report on the use of fluorescence in situ hybridization (FISH) and 
      dosage-sensitive Southern blot analysis in the molecular diagnosis of patients 
      with Saethre-Chotzen syndrome. METHODS: FISH and dosage-sensitive Southern blot 
      analysis utilizing TWIST gene probes were performed on patients with 
      Saethre-Chotzen syndrome but without an identifiable TWIST sequence variation. 
      RESULTS: Four unrelated patients with a deletion of the TWIST gene were 
      identified by Southern blot; one of them had a complex chromosomal rearrangement 
      involving 7p21 and no apparent deletion by FISH, suggesting a smaller deletion in 
      the region including the TWIST gene. A fifth patient had an abnormal TWIST gene 
      fragment on Southern blot analysis that segregated with the disease in the 
      family; FISH was normal in this patient, suggesting a partial deletion or 
      rearrangement in or near the gene. CONCLUSION: FISH and dosage-sensitive Southern 
      blot analysis are useful diagnostic tools in Saethre-Chotzen syndrome without 
      TWIST sequence variation.
FAU - Gripp, K W
AU  - Gripp KW
AD  - Division of Human Genetics and Molecular Biology, Abramson BLDG 1002, The 
      Children's Hospital of Philadelphia, 34th & Civic Center Blvd., Philadelphia, PA 
      19104, USA.
FAU - Kasparcova, V
AU  - Kasparcova V
FAU - McDonald-McGinn, D M
AU  - McDonald-McGinn DM
FAU - Bhatt, S
AU  - Bhatt S
FAU - Bartlett, S P
AU  - Bartlett SP
FAU - Storm, A L
AU  - Storm AL
FAU - Drumheller, T C
AU  - Drumheller TC
FAU - Emanuel, B S
AU  - Emanuel BS
FAU - Zackai, E H
AU  - Zackai EH
FAU - Stolle, C A
AU  - Stolle CA
LA  - eng
GR  - M01-RR00240/RR/NCRR NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genet Med
JT  - Genetics in medicine : official journal of the American College of Medical 
      Genetics
JID - 9815831
RN  - 0 (Nuclear Proteins)
RN  - 0 (TWIST1 protein, human)
RN  - 0 (Transcription Factors)
RN  - 0 (Twist-Related Protein 1)
SB  - IM
MH  - Acrocephalosyndactylia/*diagnosis/*genetics
MH  - Adolescent
MH  - Adult
MH  - Blotting, Southern
MH  - Child
MH  - Child, Preschool
MH  - Chromosomes/ultrastructure
MH  - *Chromosomes, Human, Pair 7
MH  - Dose-Response Relationship, Drug
MH  - Female
MH  - *Gene Deletion
MH  - Humans
MH  - In Situ Hybridization
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Male
MH  - *Nuclear Proteins
MH  - Pedigree
MH  - Sequence Analysis, DNA
MH  - Transcription Factors/genetics
MH  - Twist-Related Protein 1
EDAT- 2001/04/03 10:00
MHDA- 2001/08/10 10:01
CRDT- 2001/04/03 10:00
PHST- 2001/04/03 10:00 [pubmed]
PHST- 2001/08/10 10:01 [medline]
PHST- 2001/04/03 10:00 [entrez]
AID - S1098-3600(21)00874-1 [pii]
AID - 10.1097/00125817-200103000-00003 [doi]
PST - ppublish
SO  - Genet Med. 2001 Mar-Apr;3(2):102-8. doi: 10.1097/00125817-200103000-00003.