Delineating the Mosaic Trisomy 15 Phenotype Using a Serendipitous Mechanism as a Clue

Federica Natacci, Giulia Melloni, Francesca Motta, Rosamaria Silipigni, Fabio Doniselli, Tommaso Rizzuti, Marcello Frigerio, Silvana Guerneri

Research output: Contribution to journalArticle

Abstract

Parental balanced translocation is one of the traditional indications for invasive prenatal diagnosis. Usually, the diagnostic process is straightforward. Sometimes, however, results are not entirely clear and may reveal unexpected biological processes. We performed chorionic villi sampling for a paternal 8;15 reciprocal translocation in the sixth pregnancy of a Caucasian woman. Cytogenetic analysis of chorionic villi, after both short- and long-term cultures, revealed the presence of the same rearrangement found in the father as well as a trisomy 15. Surprisingly, the trisomy, which was initially expected to derive from aberrant segregation during paternal meiosis, resulted instead from maternal nondisjunction. Although a sonogram of the fetus appeared to be normal, follow-up amniocentesis demonstrated a low-level mosaic trisomy 15 in cells extracted from the amniotic fluid, while 10% of cells from fetal tissues sampled after termination of the pregnancy were also found to be trisomic. Fetal autopsy showed dysmorphic features, confirming the diagnosis of mosaic trisomy 15 and enabled deeper insight into the prenatal phenotype of this rare condition.

Original languageEnglish
Pages (from-to)44-50
Number of pages7
JournalCytogenetic and Genome Research
Volume146
DOIs
Publication statusPublished - Sep 20 2015

Keywords

  • Mosaicism
  • Prenatal diagnosis
  • Rare disease
  • Translocation
  • Trisomy 15

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Molecular Biology

Fingerprint Dive into the research topics of 'Delineating the Mosaic Trisomy 15 Phenotype Using a Serendipitous Mechanism as a Clue'. Together they form a unique fingerprint.

  • Cite this