Mosaicism for trisomy 12: Four cases with varying outcomes

F. Z. Bischoff, J. Zenger-Hain, D. Moses, D. L. Van Dyke, L. G. Shaffer

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

Trisomy 12 observed in chorionic villus sampling (CVS) may reflect generalized mosaicism or indicate mosaicism confined to only the placenta. In this report, four cases of trisomy 12 observed in CVS or cultured placental biopsies with varying outcomes are presented. Seven dinucleotide repeat polymorphisms for chromosome 12 were used to determine the chromosome 12 origins in the fetus or child and to delineate the mechanism(s) that gave rise to the trisomy. In two cases (cases A and C), the mosaicism was confined to the placenta, resulting in normal liveborns. Although, in one case, the molecular results suggested an apparent duplication of one paternal chromosome 12 in the placenta, normal biparental inheritance was found in the diploid fetal cell line in both cases. In two other cases (cases B and D), trisomy 12 was observed in both extraembryonic and fetal tissues. In one of these pregnancies, a child was born by Caesarean section at 37 weeks because of intrauterine growth retardation and oligohydramnios and resulted in neonatal death. Molecular markers and fluorescence in situ hybridization (FISH) revealed low-level trisomy 12 mosaicism in the spleen. In the fourth case, fetal abnormalities were detected on ultrasound and low-level trisomy 12 mosaicism was observed in amniotic fluid cells using conventional cytogenetics and FISH. Molecular markers revealed a maternal meiosis I non-disjunction of chromosome 12 in DNA from a cultured placental biopsy. Although predicting the outcomes of pregnancies involving confined placental mosaicism remains difficult, molecular techniques are valuable tools for distinguishing uniparental from biparental disomy and mechanisms of mosaicism.

Original languageEnglish (US)
Pages (from-to)1017-1026
Number of pages10
JournalPrenatal Diagnosis
Volume15
Issue number11
DOIs
StatePublished - 1995
Externally publishedYes

Fingerprint

Mosaicism
Trisomy
Chromosomes, Human, Pair 12
Placenta
Chorionic Villi Sampling
Fluorescence In Situ Hybridization
Fetus
Uniparental Disomy
Oligohydramnios
Dinucleotide Repeats
Biopsy
Fetal Growth Retardation
Meiosis
Amniotic Fluid
Pregnancy Outcome
Diploidy
Cytogenetics
Cesarean Section
Spleen
Mothers

Keywords

  • Chorionic villus sample
  • Confined placental mosaicism
  • Fluorescence in situ hybridization
  • Trisomy

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynecology

Cite this

Bischoff, F. Z., Zenger-Hain, J., Moses, D., Van Dyke, D. L., & Shaffer, L. G. (1995). Mosaicism for trisomy 12: Four cases with varying outcomes. Prenatal Diagnosis, 15(11), 1017-1026. https://doi.org/10.1002/pd.1970151106

Mosaicism for trisomy 12 : Four cases with varying outcomes. / Bischoff, F. Z.; Zenger-Hain, J.; Moses, D.; Van Dyke, D. L.; Shaffer, L. G.

In: Prenatal Diagnosis, Vol. 15, No. 11, 1995, p. 1017-1026.

Research output: Contribution to journalArticle

Bischoff, FZ, Zenger-Hain, J, Moses, D, Van Dyke, DL & Shaffer, LG 1995, 'Mosaicism for trisomy 12: Four cases with varying outcomes', Prenatal Diagnosis, vol. 15, no. 11, pp. 1017-1026. https://doi.org/10.1002/pd.1970151106
Bischoff FZ, Zenger-Hain J, Moses D, Van Dyke DL, Shaffer LG. Mosaicism for trisomy 12: Four cases with varying outcomes. Prenatal Diagnosis. 1995;15(11):1017-1026. https://doi.org/10.1002/pd.1970151106
Bischoff, F. Z. ; Zenger-Hain, J. ; Moses, D. ; Van Dyke, D. L. ; Shaffer, L. G. / Mosaicism for trisomy 12 : Four cases with varying outcomes. In: Prenatal Diagnosis. 1995 ; Vol. 15, No. 11. pp. 1017-1026.
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