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


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


May 1, 1976·Acta paediatrica Scandinavica·C Y Yeung, L Yang
Sep 1, 1975·American Journal of Diseases of Children·P L TownesK Goh
Jan 1, 1979·Methods in Enzymology·L C Reid
Mar 11, 1991·Nucleic Acids Research·P R Hoban, A M Kelsey
Jul 11, 1991·Nucleic Acids Research·M H PolymeropoulosC R Merril
Dec 1, 1989·Jinrui idengaku zasshi. The Japanese journal of human genetics·N HaradaN Niikawa
Jul 1, 1985·Prenatal Diagnosis·M M McCorquodaleJ Furlong
Nov 1, 1996·Clinical Genetics·K AbeN Niikawa

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