title: Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies.
abstract: Foetal blood sampling was performed at 35 weeks of gestation due to abnormal foetal ultrasound findings. There was apparent monosomy 21 (45,XX,-21) in all mitoses analyzed. The infant died at 37 weeks during delivery. Examination disclosed facial anomalies, clubfeet, hypoplasia of the left urogenital tract, agenesis of corpus callosum, ventricular dilatation, and heterotopias. Reevaluation of the karyotype showed an unbalanced translocation t(1;21) (q44;q22.11) which resulted from a maternal balanced translocation. These findings were confirmed by fluorescence in situ hybridization and molecular studies with chromosome 21 specific markers. The latter showed a proximal deletion of the maternally derived chromosome 21 including all loci from centromere down to the D21S210 locus. This case illustrates the need for complementary cytogenetic and molecular investigations in cases of apparent monosomy 21.
authors.affiliation: Laboratory of Cytogenetics, Brugmann University Hospital, Brussels, Belgium.
authors.forename: W
authors.initials: W
authors.lastname: Courtens
authors.forename: M B
authors.initials: MB
authors.lastname: Petersen
authors.forename: J C
authors.initials: JC
authors.lastname: Noël
authors.forename: J
authors.initials: J
authors.lastname: Flament-Durand
authors.forename: N
authors.initials: N
authors.lastname: Van Regemorter
authors.forename: D
authors.initials: D
authors.lastname: Delneste
authors.forename: P
authors.initials: P
authors.lastname: Cochaux
authors.forename: M R
authors.initials: MR
authors.lastname: Verschraegen-Spae
authors.forename: N
authors.initials: N
authors.lastname: Van Roy
authors.forename: F
authors.initials: F
authors.lastname: Speleman
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D002891:Chromosomes, Human, Pair 21; D017809:Fatal Outcome; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D014178:Translocation, Genetic; D014551:Urinary Tract / Q000002:abnormalities