Application of fluorescent in situ hybridization for 'de novo' anomalies in prenatal diagnosis.
Fluorescent in situ Hybridization (FISH) was carried out for three cases of abnormal karyotypes in prenatal studies. Two concerned de novo structural anomalies and the third a marker chromosome. The origin of the extra material could be defined in all three cases, which gives a better insight into the relationship between genotype and phenotype and makes more adequate genetic counselling possible.
Van Opstal
D
D
Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
Eussen
H J
HJ
Van Hemel
J O
JO
Sachs
E S
ES
D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002880:Chromosomes, Human, Pair 11; D002884:Chromosomes, Human, Pair 15; D002887:Chromosomes, Human, Pair 18; D015342:DNA Probes; D003616:Dandy-Walker Syndrome / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007231:Infant, Newborn; D007621:Karyotyping; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011263:Pregnancy Trimester, Third; D011296:Prenatal Diagnosis / Q000379:methods*; D014178:Translocation, Genetic; D014314:Trisomy
D015342:DNA Probes