Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: A review

Barbara Gentilin, Silvana Guerneri, Vera Bianchi, Federica Natacci, Augusto Colombo, Roberto Fogliani, Renato Fortuna, Domenico A. Coviello, Cristina Curcio, Faustina Lalatta

Research output: Contribution to journalArticle

Abstract

We present the case of a monozygotic twin pregnancy discordant for phenotype and karyotype. A chorionic villus sample was performed at the 11th week of gestation in a primigravida because of cystic hygroma detected by ultrasound in one twin of a monochorionic, biamniotic pregnancy. Rapid testing by means of quantitative fluorescence polymerase chain reaction and conventional karyotyping, obtained by both short- and long-term culture, revealed a homogeneous monosomy X (45,X). Amniocentesis was performed separately for both twins before termination and showed an homogeneous monosomy X in one sample and a 46,X,del(X)(p11.1) karyotype in the other one. Postmortem fetal tissues culture confirmed the discordant karyotype between the two embryos. Placental samples obtained after termination revealed the cell line which was not detected at chorionic villus sampling. Based on this and previous reports, we suggest that in cases of a phenotypic discordance detected at ultrasound in the first trimester, it is advisable to perform a karyotype analysis on amniocytes because it better reflects fetal constitution rather than chorionic villi or lymphocytes in case of heterokary-otipic monosomy X monochorionic twins.

Original languageEnglish
Pages (from-to)352-356
Number of pages5
JournalTwin Research and Human Genetics
Volume11
Issue number3
DOIs
Publication statusPublished - Jun 2008

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology
  • Pediatrics, Perinatology, and Child Health

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