Hidden mosaicism for a structural chromosome rearrangement: a rare explanation for recurrent miscarriages and affected offspring?
Kouru KH, Malmgren H, White I, Blennow E
Department of Molecular Medicine and Surgery, Clinical Genetics Unit, Karolinska Institutet, Stockholm, Sweden. Katarina.Haapaniemi-Kouru@Karolinska.se
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.
Published 24 January 2011 in Fertil Steril, 95(2): 806-8.
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