Molecular cytogenetic characterization of marker chromosomes found at prenatal diagnosis.
The nature and origin of two de novo small marker chromosomes found at prenatal diagnosis were determined by fluorescence in situ hybridization using chromosome centromere-specific probes and chromosome-specific plasmid libraries. One marker was found in a mosaic state and was shown to be an i(18p). The second marker was characterized as an inv dup(22). We conclude that molecular cytogenetic analysis contributes to the identification of marker chromosomes and therefore facilitates genetic counselling and decision-making for the parents.
Verschraegen-Spae
M R
MR
Department of Medical Genetics, University Hospital, Gent, Belgium.
van Roy
N
N
de Perdigo
A
A
de Paepe
A
A
Speleman
F
F
D000328:Adult; D000649:Amniocentesis; D002887:Chromosomes, Human, Pair 18; D002892:Chromosomes, Human, Pair 22; D003937:Diagnosis, Differential; D005260:Female; D005456:Fluorescent Dyes; D005819:Genetic Markers; D006801:Humans; D017403:In Situ Hybridization / Q000379:methods; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008875:Middle Aged; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*
D005456:Fluorescent Dyes; D005819:Genetic Markers