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 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.
Schlesinger
C
C
Department of Human Genetics, Medizinische Hochschule Hannover, F.R.G.
Raabe
G
G
Ngo
T
T
Miller
K
K
D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D046508:Culture Techniques / Q000379:methods*; D005260:Female; D006801:Humans; D009030:Mosaicism; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D014960:X Chromosome