Genetics in medicine : official journal of the American College of Medical Genetics · 2001
A diagnostic approach to identifying submicroscopic 7p21 deletions in Saethre-Chotzen syndrome: fluorescence in situ hybridization and dosage-sensitive Southern blot analysis.
Клинический случайСтатьяПоддержка службы здравоохранения СШАНазвание и аннотация: Перевод в очереди
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Gripp K W, Kasparcova V, McDonald-McGinn D M, Bhatt S, Bartlett S P, Storm A L, Drumheller T C, Emanuel B S, Zackai E H, Stolle C A
Аннотация
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.
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.
Предметные рубрики MeSH
AcrocephalosyndactyliaAdolescentAdultBlotting, SouthernChildChild, PreschoolChromosomesChromosomes, Human, Pair 7Dose-Response Relationship, DrugFemaleGene DeletionHumansIn Situ HybridizationIn Situ Hybridization, FluorescenceInfantInfant, NewbornKaryotypingMaleNuclear ProteinsPedigreeSequence Analysis, DNATranscription FactorsTwist-Related Protein 1