Hidden Mosaicism for a Structural Chromosome Rearrangement: a Rare Explanation for Recurrent Miscarriages and Affected Offspring?

Overview

Journal Fertil Steril

Specialty Reproductive Medicine

Date 2010 Oct 19

PMID 20951377

Citations 2

Authors

Katarina Haapaniemi Kouru

Helena Malmgren

Irene White

Elisabeth Blennow

Affiliations

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Abstract

We found maternal mosaicism for an unbalanced chromosome rearrangement in a woman with recurrent chromosome rearrangements in the offspring. Hidden mosaicism may be a previously underestimated explanation for recurrent miscarriages and/or affected offspring, and preimplantation genetic diagnosis can be used to verify germinal mosaicism, to evaluate the recurrence risk, and to provide a possibility to achieve a normal pregnancy.

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