Mosaicism and uniparental disomy in prenatal diagnosis

Thomas Eggermann; Lukas Soellner; Karin Buiting; Dieter Kotzot

doi:10.1016/j.molmed.2014.11.010

Mosaicism and uniparental disomy in prenatal diagnosis

Trends Mol Med. 2015 Feb;21(2):77-87. doi: 10.1016/j.molmed.2014.11.010. Epub 2014 Dec 2.

Authors

Thomas Eggermann¹, Lukas Soellner², Karin Buiting³, Dieter Kotzot⁴

Affiliations

¹ Institute of Human Genetics, RWTH University Hospital, Aachen, Germany. Electronic address: teggermann@ukaachen.de.
² Institute of Human Genetics, RWTH University Hospital, Aachen, Germany.
³ Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
⁴ Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University Innsbruck, Innsbruck, Austria.

PMID: 25547535
DOI: 10.1016/j.molmed.2014.11.010

Abstract

Chromosomal mosaicism is the presence of numerous cell lines with different chromosomal complements in the same individual. Uniparental disomy (UPD) is the inheritance of two homologous chromosomes from the same parent. These genetic anomalies arise from errors in meiosis and/or mitosis and can occur independently or in combination. Due to the formation mechanisms of UPD, low-level or undetected mosaicisms are assumed for a significant number of UPD cases. The pre- and postnatal clinical consequences of mosaicism for chromosomal aberrations and/or UPD depend on the gene content of the involved chromosome. In prenatal evaluation of chromosomal mosaicism and UPD, genetic counseling should be offered before any laboratory testing.

Keywords: aneuploidy; genetic counseling; genetic testing; mosaicism; prenatal diagnosis; uniparental disomy.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Female
Humans
Mosaicism*
Pregnancy
Pregnancy Complications / diagnosis*
Pregnancy Complications / genetics
Prenatal Diagnosis
Uniparental Disomy / diagnosis*
Uniparental Disomy / genetics