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Article

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

American journal of medical genetics - 3 Feb 1998

Harada N, Abe K, Nishimura T, Sasaki K, Ishikawa M, Fujimoto M, Matsumoto T, Niikawa N

Abstract excerpt

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,...

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Source

Identifiers

PMID: 9482654
DOI: 10.1002/(sici)1096-8628(19980203)75:4<432::aid-ajmg17>3.0.co;2-p

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Origin and mechanism of formation of 45,X/47,XX,+21 mosaicism in a fetus.PMID 9482654Read ↗

High-level mosaicism for 45,X in 45,X/46, XY at amniocentesis in a pregnancy with a favorable fetal outcome and cytogenetic discrepancy in various tissuesSemantic proximity Read ↗

Mosaic 46,XX,der(9)t(9;13)(p24;q12)/46,XX at amniocentesis can be a culture artefact and associated with a favorable fetal outcomeSemantic proximity Read ↗

Prenatal diagnosis of low-level mosaicism for trisomy 21 by amniocentesis in a pregnancy associated with maternal uniparental disomy of chromosome 21 in the fetus and a favorable outcomeSemantic proximity Read ↗

High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a fetus with a favorable fetal outcome and the karyotype of 46,XX in the neonatal peripheral blood at age 4½ monthsSemantic proximity Read ↗

Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX,+14 karyotype.Semantic proximity Read ↗

Fetal 46,XX/69,XXY mixoploidy: origin and confirmation by analysis of fetal urine cellsSemantic proximity Read ↗

High-level mosaicism for 45,X in 45,X/46,X,+mar at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing for Turner syndrome, normal male external genitalia and positive SRY in the fetus, a favorable fetal outcome, postnatal decrease of the 45,X cell line and cytogenetic discrepancy in various tissuesSemantic proximity Read ↗

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45,X/46,XX at amniocentesis associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and in different amniocenteses and a favorable fetal outcome with a normal karyotype at birthSemantic proximity Read ↗

Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events.Semantic proximity Read ↗

Mosaic trisomy 21/monosomy 21 in a living female infant.Semantic proximity Read ↗

Mosaic trisomy 21 at amniocentesis in a twin pregnancy associated with a favorable fetal outcome, maternal uniparental disomy 21 and postnatal decrease of the trisomy 21 cell lineSemantic proximity Read ↗

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