Outcome after prenatal detection of a sporadic, unstable translocation t(5;21)

Amniotic fluid cultures from a 37 year old woman showed a sporadic 46,XX,t(5;21)(5qter---5p13 or p14::5pter---5p13 or p14::21p12---21qter) complement. In the majority of metaphases the 5p fragment was attached to the stalks of chromosome 21; however, in 9% of metaphases, the fragment was loosely att...

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Bibliographic Details
Published in:Journal of medical genetics 1986-06, Vol.23 (3), p.274-278
Main Authors: Martin, A O, Benuck, I, Traisman, H S, Swanson, M S, Trakas, N, Laing, K, Rosinsky, B J, Beaird, J, Traisman, E S, Elias, S
Format: Article
Language:English
Subjects:
Adult
Amniotic Fluid - cytology
Biological and medical sciences
Child Development
Chromosomes, Human, 21-22 and Y
Chromosomes, Human, 4-5
Female
Gynecology. Andrology. Obstetrics
Humans
Infant, Newborn
Karyotyping
Management. Prenatal diagnosis
Maternal Age
Medical sciences
Phenotype
Pregnancy
Pregnancy, High-Risk
Pregnancy. Fetus. Placenta
Prenatal Diagnosis
Prognosis
Translocation, Genetic
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Summary:Amniotic fluid cultures from a 37 year old woman showed a sporadic 46,XX,t(5;21)(5qter---5p13 or p14::5pter---5p13 or p14::21p12---21qter) complement. In the majority of metaphases the 5p fragment was attached to the stalks of chromosome 21; however, in 9% of metaphases, the fragment was loosely attached by a 'thread' and in 6% it was completely detached. Silver staining and in situ hybridisation with a homologous ribosomal gene probe, which localises to stalk regions (nucleolar organisers, NOR) of human acrocentric chromosomes, failed to show a reciprocal exchange. Prognosis was uncertain because the possibility that the 5p fragment might have been lost in some cell lines could not be excluded. Nonetheless, the parents elected to continue the pregnancy. The translocation was confirmed in blood specimens obtained both at birth and at 1 year of age and showed similar instability. However, the proband shows no anomalies and is developing normally at 1 year.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.23.3.274