Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference23 articles.
1. Tetrasomy 18p: tentative delineation of a syndrome
2. A hypervariable repeated sequence on human chromosome 1p36
3. (1984): “Clinical Atlas of Human Chromosomes.” New York: John Wiley & Sons, pp 292-297.
4. A genetic linkage map of the human genome
5. Partial 18 trisomy (with 47 chromosomes) resulting from a familial maternal translocation.
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2. Prenatal detection of an inverted duplication deletion in the long arm of chromosome 1 in a fetus with increased nuchal translucency. Molecular cytogenetic analysis and review of the literature;Clinical Dysmorphology;2012-04
3. Inv dup del(9p): Prenatal diagnosis and molecular cytogenetic characterization by fluorescence in situ hybridization and array comparative genomic hybridization;Taiwanese Journal of Obstetrics and Gynecology;2011-03
4. Telomere Capture as a Frequent Mechanism for Stabilization of the Terminal Chromosomal Deletion Associated with Inverted Duplication;Cytogenetic and Genome Research;2010
5. Inverted duplications deletions: underdiagnosed rearrangements??;Clinical Genetics;2009-06
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