Spectral Karyotyping (SKY): Applications in Prenatal Diagnostics

2008 ◽  
pp. 3-26 ◽  
Author(s):  
Susanne Mergenthaler-Gatfield ◽  
Wolfgang Holzgreve ◽  
Sinuhe Hahn
Keyword(s):  
Prenatal Diagnostics ◽  
Spectral Karyotyping

Spectral karyotyping of Werner syndrome fibroblast cultures

2000 ◽  
Vol 91 (1-4) ◽  
pp. 180-185 ◽  
Author(s):  
R. Melcher ◽  
R. von Golitschek ◽  
C. Steinlein ◽  
D. Schindler ◽  
H. Neitzel ◽  
...  
Keyword(s):  
Werner Syndrome ◽  
Spectral Karyotyping ◽  
Fibroblast Cultures

Distinct cytogenetic pathways of advanced-stage neuroblastoma tumors, detected by spectral karyotyping

2002 ◽  
Vol 34 (3) ◽  
pp. 313-324 ◽  
Author(s):  
Batia Stark ◽  
Marta Jeison ◽  
Irit Bar-Am ◽  
Leticia Glaser-Gabay ◽  
Jacques Mardoukh ◽  
...  
Keyword(s):  
Advanced Stage ◽  
Spectral Karyotyping

Subamniotic cysts placenta: prenatal diagnostics and perinatal outcomes

2020 ◽  
Author(s):  
À.Å. Volkov , V.V. Voloshin
Keyword(s):  
Perinatal Outcomes ◽  
Prenatal Diagnostics ◽  
Pregnancy And Childbirth ◽  
Negative Effect

The description of the prenatal echosemiotics of subamniotic placenta cysts (SAPС) is presented. The prenatal frequency of their detection was 7.97:1000; postnatal — 3.14: 1000. An analysis of the course of pregnancy and childbirth, the condition of the fetus and newborns in the presence of SAPС did not reveal a proven negative effect on these indicators.

scholarly journals ANALYSIS OF COMPLEX CHROMOSOMAL ABNORMALITIES IN A CASE OF MULTIPLE MYELOMA USING SPECTRAL KARYOTYPING

2018 ◽  
Vol 11 (9) ◽  
pp. 9
Author(s):  
Perumal Govindasamy ◽  
Pooja S Kulshreshtha ◽  
Prabu Pandurangan ◽  
Anil Tarigopula ◽  
Jayarama S Kadandale ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Chromosomal Abnormalities ◽  
Bone Marrow Cells ◽  
Spectral Karyotyping ◽  
Multicolor Fish ◽  
Genetic Abnormalities ◽  
Prognostic Outcome ◽  
Conventional Cytogenetics ◽  
Marrow Cells

Objective: It was proposed to determine the chromosomal abnormalities in a 49-year-old male patient with multiple myeloma (MM) employing both conventional and advanced molecular cytogenetic techniques.Methods: GTG-banding and spectral karyotyping (SKY) on fixed metaphases obtained from LPS-stimulated bone marrow cells and interphase fluorescence in situ hybridization (iFISH) on unsorted marrow cells were carried out to identify genetic markers of prognostic significance.Results: The abnormal chromosomes observed through conventional cytogenetics could be resolved with SKY technique. The translocation t(4;14) (p16;q32) indicating FGFR3/IGH fusion and deletion of 13q14.3 was noticed using iFISH. The genetic abnormalities confirmed a poor prognostic outcome in the patient who died within 6 months of diagnosis.Conclusion: This report emphasizes the need for multicolor FISH techniques besides iFISH to resolve complex abnormalities and to identify cryptic aberrations of importance in risk stratification of MM patients.

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