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

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...

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Bibliographic Details
Published inPrenatal diagnosis Vol. 10; no. 9; p. 609
Main Authors Schlesinger, C, Raabe, G, Ngo, T, Miller, K
Format Journal Article
LanguageEnglish
Published England 01.09.1990
Subjects
Chorionic Villi Sampling
Chromosome Aberrations - diagnosis
Chromosome Disorders
Culture Techniques - methods
Female
Humans
Mosaicism
Pregnancy
Pregnancy Trimester, First
X Chromosome
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Summary: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.
ISSN:0197-3851
DOI:10.1002/pd.1970100910