Prenatal detection of short arm deletion and isochromosome 18 formation investigated by molecular techniques

A patient was referred for amniocentesis because of advanced maternal age and polyhydramnios. The fetal karyotype was a mosaic 46,XX,del(18)(p11.1)/46,XX,-18,+i(18q)de novo. The deletion appeared to encompass the whole short arm as evidenced by G banding and in situ hybridisation. However, telomere...

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Bibliographic Details
Published in:Journal of medical genetics 1995-12, Vol.32 (12), p.991-993
Main Authors: Qumsiyeh, M B, Tomasi, A, Taslimi, M
Format: Article
Language:English
Subjects:
Adult
Amniocentesis
Amniotic Fluid
Biological and medical sciences
Cell lines
Chromosome banding
Chromosomes, Human, Pair 18 - genetics
Female
Fetuses
Gene Deletion
Gynecology. Andrology. Obstetrics
Humans
Hybridization
Isochromosomes - genetics
Karyotypes
Male
Management. Prenatal diagnosis
Medical sciences
Pedigree
Pregnancy
Pregnancy. Fetus. Placenta
Prenatal Diagnosis
Research Article
Telomeres
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Summary:A patient was referred for amniocentesis because of advanced maternal age and polyhydramnios. The fetal karyotype was a mosaic 46,XX,del(18)(p11.1)/46,XX,-18,+i(18q)de novo. The deletion appeared to encompass the whole short arm as evidenced by G banding and in situ hybridisation. However, telomere sequences were found on both ends of the deleted chromosome as well as the isochromosome. The normal 18 and the isochromosome showed more alphoid sequences than the del(18). Subsequent passages of the cell lines showed an increase in the frequency of the isochromosome from 20% to about 30%. Possible mechanisms are discussed.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.32.12.991