Hidden mosaicism for a structural chromosome rearrangement: a rare explanation for recurrent miscarriages and affected offspring?
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.
Kouru
Katarina Haapaniemi
KH
Department of Molecular Medicine and Surgery, Clinical Genetics Unit, Karolinska Institutet, Stockholm, Sweden. Katarina.Haapaniemi-Kouru@Karolinska.se
Malmgren
Helena
H
White
Irene
I
Blennow
Elisabeth
E
D000025:Abortion, Eugenic; D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D016241:Child of Impaired Parents; D002869:Chromosome Aberrations / Q000196:embryology; D025063:Chromosome Disorders; D005190:Family; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009030:Mosaicism; D011247:Pregnancy