z-logo
Premium
Prenatal diagnosis of trisomy 21 and X/XX sex chromosome mosaicism
Author(s) -
McCorquodale Maureen M.,
Cummins Theresa,
Furlong Judith
Publication year - 1985
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.1970050409
Subject(s) - prenatal diagnosis , turner syndrome , trisomy , aneuploidy , chromosomal abnormality , down syndrome , amniocentesis , medicine , karyotype , obstetrics , chromosome abnormality , pediatrics , chromosome , gynecology , genetics , fetus , pregnancy , biology , gene
Double aneuploidy involving Down syndrome and Turner syndrome is a rare chromosomal abnormality presumed to occur with a frequency of about 1 in 2 million births. Twenty‐one cases of this combined anomaly have been reported and two infants were born with this anomaly after a mistake in prenatal diagnosis. We report the first prenatal diagnosis of Down syndrome combined with Turner mosaicism and suggest that this polysyndrome may be more common than previously estimated. We, therefore, wish to alert cytogenetic laboratories performing prenatal diagnoses of the potential risks of misdiagnosis of this polysyndrome if banding is not performed and if a sufficient number of mitotic cells are not analysed.

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here