PMID: 9482654Mar 3, 1998Paper

Origin and mechanism of formation of 45,X/47,XX,+21 mosaicism in a fetus

American Journal of Medical Genetics
N HaradaN Niikawa

Abstract

Chromosome analysis of amniotic fluid cells from a 17-week-old fetus with a nuchal cystic hygroma showed a 45,X/47,XX,+21 karyotype. Analyses of cord blood lymphocytes, skin fibroblasts, amniotic membrane, and chorionic villi demonstrated both cell lines in various proportions. We studied the origin and mechanism of formation of the double mosaic aneuploid using Q-banded chromosomal heteromorphisms, and one RFLP, two VNTRs, one tetranucleotide repeat, 28 CA repeat markers, mapped to every member of chromosomes. The heteromorphic markers examined showed no discordant patterns in parent-to-child transmission or between the two cell lines except for those in chromosomes 21 and X. Fetal DNA was extracted from its established monoclonal fibroblast cell lines with 45,X or 47,XX,+21 karyotypes. Genotyping with the DNA markers showed that each cell line was identical at every locus, except for chromosome 21 or X loci, indicating that the fetus was not a chimera but a mosaic. The 21-trisomic cells had one paternal allele and two maternal heterozygous alleles at the D21S270 locus, and the 45,X (21-disomic) cells had two biparental alleles. Alleles at two X chromosomal loci, DXS991 and DXS8057, were biparental in the 47,XX,+21 cells, wher...Continue Reading

References

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Citations

Jan 31, 2012·Molecular Cytogenetics·Karin Huijsdens-van AmsterdamAlida C Knegt
Dec 8, 2004·American Journal of Medical Genetics. Part a·Denise I QuigleyShawn E McCandless
Aug 6, 2003·American Journal of Medical Genetics. Part a·Isabel Lorda-SanchezCarmen Ramos
Jun 9, 2009·American Journal of Medical Genetics. Part a·Caroline Schluth-BolardPatrick Edery
Jan 22, 2009·Annals of the New York Academy of Sciences·M RamsayT de Ravel
Nov 22, 2014·American Journal of Medical Genetics. Part a·Paulie PapavassiliouColleen Jackson-Cook
Dec 10, 1999·American Journal of Medical Genetics·T HasegawaN Matsuo
Jul 13, 2002·American Journal of Medical Genetics·Regine SchubertGesa Schwanitz
Jul 11, 2006·Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology·Orit ReishMaya Mashevich
Jun 11, 2008·Clinical Dysmorphology·Horacio Rivera
May 7, 2010·The Korean journal of laboratory medicine·Sook Won RyuKyung A Lee
Aug 11, 2005·American Journal of Medical Genetics. Part a·Renée C NiessenAnthonie J van Essen
Dec 1, 2007·Clinical Dysmorphology·Luis E Becerra-SolanoLuis E Figuera
Apr 6, 2020·Cytogenetic and Genome Research·Takema KatoHiroki Kurahashi

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