The Maternal Uniparental Disomy of Chromosome 6 (upd(6)mat) "phenotype": Result of Placental Trisomy 6 mosaicism?

Overview

Journal Mol Genet Genomic Med

Specialty Genetics

Date 2017 Nov 28

PMID 29178649

Citations 13

Authors

Thomas Eggermann

Barbara Oehl-Jaschkowitz

Severin Dicks

Wolfgang Thomas

Deniz Kanber

Beate Albrecht

Matthias Begemann

Ingo Kurth

Jasmin Beygo

Karin Buiting

Affiliations

Soon will be listed here.

Abstract

Background: Maternal uniparental disomy of chromosome 6 (upd(6)mat) is a rare finding and its clinical relevance is currently unclear. Based on clinical data from two new cases and patients from the literature, the pathogenetic significance of upd(6)mat is delineated.

Methods: Own cases were molecularly characterized for isodisomic uniparental regions on chromosome 6. For further cases with upd(6)mat, a literature search was conducted and genetic and clinical data were ascertained.

Results: Comparison of isodisomic regions between the new upd(6)mat cases and those from four reports did not reveal any common isodisomic region. Among the patients with available cytogenetic data, five had a normal karyotype in lymphocytes, whereas a trisomy 6 (mosaicism) was detected prenatally in four cases. A common clinical picture was not obvious in upd(6)mat, but intrauterine growth restriction (IUGR) and preterm delivery were frequent.

Conclusion: A common upd(6)mat phenotype is not obvious, but placental dysfunction due to trisomy 6 mosaicism probably contributes to IUGR and preterm delivery. In fact, other clinical features observed in upd(6)mat patients might be caused by homozygosity of recessive mutations or by an undetected trisomy 6 cell line. Upd(6)mat itself is not associated with clinical features, and can rather be regarded as a biomarker. In case upd(6)mat is detected, the cause for the phenotype is identified indirectly, but the UPD is not the basic cause.

Citing Articles

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Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review.

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