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Down syndrome with pure partial trisomy 21q22 due to a paternal insertion (4;21) uncovered by uncultured amniotic fluid interphase FISH
J. Lee
, J. R. Stanley
, S. A. Vaz
, J. J. Mulvihill
, P. Wilson
, D. Hopcus-Niccum
, Shibo Li
*
*
Corresponding author for this work
Research output
:
Contribution to journal
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Article
›
peer-review
8
Citations (Scopus)
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Dive into the research topics of 'Down syndrome with pure partial trisomy 21q22 due to a paternal insertion (4;21) uncovered by uncultured amniotic fluid interphase FISH'. Together they form a unique fingerprint.
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Keyphrases
Abnormal Ultrasound
25%
Amniotic Fluid
100%
Amniotic Fluid Cells
100%
Blood Specimen
25%
Chromosome 4
25%
Chromosome Analysis
25%
Chromosome Paint
25%
Chromosome X
25%
Chromosome Y
25%
Classical Features
25%
Cryptic Insertion
25%
DNA Probe
25%
Down Syndrome
100%
Fetus
25%
Fluorescence in Situ Hybridization
75%
Fluorescence in Situ Hybridization Analysis
25%
Interphase Fluorescence in Situ Hybridization
100%
Locus-specific
25%
Partial Trisomy
100%
Partial Trisomy 21
25%
Peripheral Blood
25%
Prenatal Diagnosis
25%
Sex Chromosome Aneuploidy
25%
Biochemistry, Genetics and Molecular Biology
Amnion Fluid
100%
Amniotic Fluid Cell
80%
Aneuploidy
20%
Chromosome 4
20%
Cytogenetics
20%
DNA Probe
20%
Down Syndrome
100%
Fluorescence in Situ Hybridization
100%
Interphase
100%
Trisomy
100%
Trisomy 21
20%
X Chromosome
20%
Y Chromosome
20%