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Complex mosaicism associated with trisomy 9
Author(s) -
Smoleniec J. S.,
Davies T.,
Lunt P.,
Berry P. J.,
James D.
Publication year - 1993
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.1970130308
Subject(s) - amniocentesis , chorionic villus sampling , fetus , karyotype , trisomy , chorionic villi , placenta , aneuploidy , biopsy , prenatal diagnosis , biology , andrology , pathology , gynecology , medicine , obstetrics , chromosome , pregnancy , genetics , gene
Abstract Fetal karyotypes can be routinely obtained by chorionic villus biopsy, amniocentesis, or fetal blood sampling. Interpretation of results and subsequent counselling can be complicated by pseudomosaicism or mosaicism confined to the placenta or other tissues. We illustrate this by reporting a case of an abnormal fetus with a total of three karyotypically different cell lines (46,XXrpar; 47,XX, + 9; and 47,XX, + del (9) (q11) in different tissues (placenta, lung, gonad, and skin).

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