Back to Search
Start Over
Proximal deletion of chromosome 21 confirmed by in situ hybridization and molecular studies
- Source :
- American journal of medical genetics. 51(3)
- Publication Year :
- 1994
-
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.
- Subjects :
- medicine.medical_specialty
Monosomy
Chromosomes, Human, Pair 21
Aneuploidy
Chromosomal translocation
Gene mutation
Biology
Translocation, Genetic
Fatal Outcome
medicine
Humans
Abnormalities, Multiple
Urinary Tract
Genetics (clinical)
In Situ Hybridization, Fluorescence
medicine.diagnostic_test
Cytogenetics
Infant, Newborn
Karyotype
Genitalia, Female
medicine.disease
Molecular biology
Chromosome Banding
Chromosomes, Human, Pair 1
Karyotyping
Female
Agenesis of Corpus Callosum
Chromosome Deletion
Chromosome 21
Fluorescence in situ hybridization
Subjects
Details
- ISSN :
- 01487299
- Volume :
- 51
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- American journal of medical genetics
- Accession number :
- edsair.doi.dedup.....c3af64071f67b6eb68f0105890266cb0