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Pregnancy and postnatal outcome of mosaic isochromosome 20q
Author(s) -
Robinson W. P.,
McGillivray B.,
Friedman J. M.
Publication year - 2007
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1636
Subject(s) - isochromosome , pregnancy , fetus , amniotic fluid , biology , obstetrics , medicine , genetics , karyotype , gene , chromosome
Prenatally diagnosed mosaicism for isochromosome 20q is generally reported in association with a normal outcome at birth and is rarely confirmed postnatally. However, the origin of these abnormal cells is unclear and there are few reports of long‐term outcomes. We present an additional case of prenatally detected isochromosome 20q, with normal outcome up to age 3.6 years. The abnormal cells, while present at high levels in the amniotic fluid, could not be confirmed in placenta or fetal blood. Nonetheless, based on a review of the literature, the level of isochromosome 20q cells found is associated with risk of abnormal outcome, suggesting a possible effect in some cases. Copyright © 2006 John Wiley & Sons, Ltd.