Trisomy 12 mosaicism detected by mid–trimester amniocentesis

Rena Petrella, Kurt Hirschhorn

Research output: Contribution to journalArticlepeer-review

17 Scopus citations


Trisomy 12 mosaicism was found in about 15 per cent of cultured amniocytes obtained from a 32‐year‐old white female at 17·6 weeks of gestation. Termination of pregnancy was elected and multiple tissues were obtained for chromosome analysis. Of 158 cells examined, only 1 cell in placenta was found with an extra number 12 chromosome. Pathological examination of the fetus did not reveal significant physical abnormalities. This report illustrates the difficulty of confirming trisomy 12 mosaicism which has been detected on prenatal diagnosis. The presence of trisomy 12 in one placental cell obtained from the curettage specimen suggests the possibility of confined placental mosaicism in this case.

Original languageEnglish
Pages (from-to)781-785
Number of pages5
JournalPrenatal Diagnosis
Issue number12
StatePublished - Dec 1990


  • Amniocentesis
  • Prenatal diagnosis
  • Trisomy 12 mosaicism


Dive into the research topics of 'Trisomy 12 mosaicism detected by mid–trimester amniocentesis'. Together they form a unique fingerprint.

Cite this