The significance of trisomy 7 mosaicism in chorionic villus cultures

K. S. Reddy, Karin Blakemore, G. Stetten, V. Corson

Research output: Contribution to journalArticle

Abstract

Two cases of mosaic trisomy 7 confined to the cultured cells and not found in direct preparation were detected from 200 consecutive first-trimester chorionic villus samples (CVS) analysed. The mosaicism was similar in the two cases, but the pregnancy outcome was different. In both cases, the direct metaphases from the CVS were 46,XY. Culture metaphases were mos46,XY/47,XY,+7; the trisomy 7 was seen in 34 per cent of cells from case 1 and 53 per cent from case 2. A sonogram at 15 1/2 weeks revealed fetal death in utero in case 1, and the patient declined amniocentesis. The fetal tissue failed to grow in culture, but the placental cultured cells were 47,XY,+7 in 28 (100 per cent) cells analysed. In the second case, all the amniotic fluid cells were 46,XY and the pregnancy resulted in a normal male with a 46,XY karyotype in the cord blood and foreskin fibroblast cultures. The term placenta was mosaic with 13/163 (8 per cent) trisomy 7 cells. Extensive cytogenetic studies on the placenta for the first time confirmed trisomy 7 mosaicism confined to the villus cultures.

Original languageEnglish (US)
Pages (from-to)417-423
Number of pages7
JournalPrenatal Diagnosis
Volume10
Issue number7
DOIs
StatePublished - 1990

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Chorionic Villi
Trisomy
Metaphase
Placenta
Cultured Cells
Foreskin
Mosaicism
Fetal Death
Amniocentesis
First Pregnancy Trimester
Amniotic Fluid
Pregnancy Outcome
Fetal Blood
Karyotype
Cytogenetics
Fetus
Fibroblasts
Pregnancy
Trisomy mosaic Chromosome 7

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynecology

Cite this

The significance of trisomy 7 mosaicism in chorionic villus cultures. / Reddy, K. S.; Blakemore, Karin; Stetten, G.; Corson, V.

In: Prenatal Diagnosis, Vol. 10, No. 7, 1990, p. 417-423.

Research output: Contribution to journalArticle

Reddy, K. S. ; Blakemore, Karin ; Stetten, G. ; Corson, V. / The significance of trisomy 7 mosaicism in chorionic villus cultures. In: Prenatal Diagnosis. 1990 ; Vol. 10, No. 7. pp. 417-423.
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