CHROMOSOME-14 MATERNAL UNIPARENTAL DISOMY IN THE EUPLOID CELL-LINE OFA FETUS WITH MOSAIC 46,XX 47,XX,+14 KARYOTYPE/

Authors
SIRCHIA SM DEANDREIS C PARIANI S GRIMOLDI MG MOLINARI A BUSCAGLIA M SIMONI G
Citation
Sm. Sirchia et al., CHROMOSOME-14 MATERNAL UNIPARENTAL DISOMY IN THE EUPLOID CELL-LINE OFA FETUS WITH MOSAIC 46,XX 47,XX,+14 KARYOTYPE/, Human genetics, 94(4), 1994, pp. 355-358
Citations number
24
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
94
Issue
4
Year of publication
1994
Pages
355 - 358
Database
ISI
SICI code
0340-6717(1994)94:4<355:CMUDIT>2.0.ZU;2-S
Abstract
We investigated the parental origin of the extra chromosome 14 and of the two chromosomes 14 of the euploid cell line, in a case of fetal mo saicism 46,XX/47,XX+14 diagnosed at amniocentesis. Molecular analysis of five polymorphic loci of the short tandem repeat type was performed . Markers D14S43 and D14S49 showed the presence of maternal uniparenta l disomy of chromosome 14 in the apparently normal cell line. The dist ribution of the markers analysed along the chromosome suggests materna l heterodisomy with a large isodisomic segment in the telomeric region , possibly caused by meiotic crossing-over.