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Molecular cytogenetic characterization of marker chromosomes found at prenatal diagnosis
Author(s) -
VerschraegenSpae M. R.,
Van Roy N.,
De Perdigo A.,
De Paepe A.,
Speleman F.
Publication year - 1993
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970130511
Subject(s) - marker chromosome , centromere , biology , prenatal diagnosis , fluorescence in situ hybridization , genetics , chromosome , genetic marker , cytogenetics , karyotype , dup , microbiology and biotechnology , gene , fetus , gene duplication , pregnancy
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.