Showing 1 - 20 results of 22 for search '"fluorescent in situ hybridization"', query time: 2.11s Refine Results
  1. 1
    Application of interphase fluorescence in situ hybridization to uncultured amniocytes for differential diagnosis of pseudomosaicism from true mosaicism in mosaic isochromosome 20q detected at amniocentesis
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  2. 2
    Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived from Chromosome 18 and Associated With a Reciprocal Translocation Involving Chromosomes 17 And 18
    “... karyotyping, fluorescence in situ hybridization, multicolor-fluorescence in situ hybridization, or array...”
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    Article
  3. 3
    Prenatal diagnosis and molecular cytogenetic characterization of a 1.07-Mb microdeletion at 5q35.2–q35.3 associated with NSD1 haploinsufficiency and Sotos syndrome
    “... hybridization (aCGH) was performed on uncultured amniocytes and parental blood. Metaphase fluorescence in situ...”
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  4. 4
    Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 21q11.2-q21.1 and a literature review
    “... encompassing the genes of LIPI, ABCC13 and NRIP1. Metaphase fluorescence in situ hybridization analysis...”
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  5. 5
    Ventriculomegaly, Intrauterine Growth Restriction, and Congenital Heart Defects as Salient Prenatal Sonographic Findings of Miller-Dieker Lissencephaly Syndrome Associated With Monosomy 17p (17p13.2 → pter) in a Fetus
    “... by rapid fluorescence in situ hybridization analysis. Cytogenetic analysis of the cord blood revealed a 46...”
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    Article
  6. 6
    Prenatal diagnosis and molecular cytogenetic characterization of low-level true mosaicism for trisomy 21 using uncultured amniocytes
    “.... Interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed a mosaic...”
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    Article
  7. 7
    Prenatal diagnosis and molecular cytogenetic characterization of a de novo 4.858-Mb microdeletion in 15q14 associated with ACTC1 and MEIS2 haploinsufficiency and tetralogy of Fallot
    “... hybridization (aCGH) was performed on uncultured amniocytes and parental bloods. Metaphase fluorescence in situ...”
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    Article
  8. 8
    Prenatal diagnosis and molecular cytogenetic characterization of rec(10)dup(10p)inv(10)(p11.2q26.3) in a fetus associated with paternal pericentric inversion
    “... in situ hybridization analysis revealed a duplication of terminal 10p and a deletion of terminal 10q...”
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    Article
  9. 9
    Prenatal diagnosis of low-level mosaic trisomy 20 by amniocentesis in a pregnancy with a favorable outcome
    “... hybridization (aCGH) analysis and a mosaic level of 14.3% (15/105 cells) in interphase fluorescence in situ...”
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    Article
  10. 10
    Chromosome 15q overgrowth syndrome: Prenatal diagnosis, molecular cytogenetic characterization, and perinatal findings in a fetus with dup(15)(q26.2q26.3)
    “... from 15q26.2 to 15q26.3 encompassing the IGF1R gene. Fluorescence in situ hybridization analysis using...”
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    Article
  11. 11
    Mosaic trisomy 15 at amniocentesis: Prenatal diagnosis, molecular genetic analysis and literature review
    “...), interphase fluorescence in situ hybridization (FISH) and quantitative fluorescent polymerase chain reaction...”
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    Article
  12. 12
    Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones
    “..., parental bloods and umbilical cord. Metaphase fluorescence in situ hybridization (FISH) was performed...”
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    Article
  13. 13
    Prenatal diagnosis of maternal uniparental disomy 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction in the fetus
    “... amniocytes revealed 22.4% mosaicism (26/116 cells) for trisomy 16 on interphase fluorescence in situ...”
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    Article
  14. 14
    Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived From Chromosome 8
    “... amplification (MLPA), fluorescence in situ hybridization (FISH), spectral karyotyping (SKY) and array...”
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    Article
  15. 15
    Mosaic Trisomy 7 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses
    “... hypopigmented skin and inguinal hernia, but showed normal growth and mental development. Fluorescence in situ...”
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    Article
  16. 16
    Mosaic trisomy 12 at amniocentesis: Prenatal diagnosis and molecular genetic analysis
    “... in situ hybridization (FISH) and quantitative fluorescent polymerase chain reaction (QF-PCR) were applied...”
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    Article
  17. 17
    Wolf-Hirschhorn (4p-) syndrome: Prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion
    “.... Fluorescence in situ hybridization study showed an unbalanced reciprocal translocation between chromosomes 4...”
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    Article
  18. 18
    Prenatal diagnosis and molecular cytogenetic characterization of a de novo unbalanced reciprocal translocation of der(9)t(9;14)(p24.2;q32.11) associated with 9p terminal deletion and 14q distal duplication
    “...32.11). Metaphase fluorescence in situ hybridization (FISH) analysis using RP11-57K23 (14q32.33), RP11...”
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    Article
  19. 19
    Prenatal diagnosis of mosaic trisomy 2 associated with abnormal maternal serum screening, oligohydramnios, intrauterine growth restriction, ventricular septal defect, preaxial polydactyly, and facial dysmorphism
    “.... Interphase fluorescence in situ hybridization (FISH), array comparative genomic hybridization (aCGH...”
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    Article
  20. 20
    Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 2
    “... (aCGH), interphase fluorescence in situ hybridization (FISH) and quantitative fluorescent polymerase...”
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    Article
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