Discordant findings in chorionic villus direct preparation and long term culture—mosaicism in the fetus | Zendy

Schlesinger C. | Zendy; Raabe G. | Zendy; Ngo T. | Zendy; Miller K. | Zendy

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Discordant findings in chorionic villus direct preparation and long term culture—mosaicism in the fetus

Author(s) -

Schlesinger C.,

Raabe G.,

Ngo T.,

Miller K.

Publication year - 1990

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.1970100910

Subject(s) - chorionic villi , karyotype , amniocentesis , chorionic villus sampling , fetus , biology , andrology , prenatal diagnosis , pregnancy , genetics , chromosome , medicine , gene

Prenatal cytogenetic study of chorionic villi showed a discrepancy between a normal female karyotype 46,XX in the direct preparation after short‐term incubation, and a 45,X karyotype in the long‐term culture. The subsequent amniocentesis revealed a normal karyotype in three cultures and a 45,X/46,XX mosaicism in one culture. Cytogenetic analysis of chorionic villi after termination of the pregnancy showed a normal karyotype in the direct preparation and a 45,X/46,XX mosaicism in the long‐term culture. Fetal lymphocytes showed normal karyotypes, whereas fibroblast cultures revealed a 45,X/46,XX mosaicism.

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