Five cases of prenatally diagnosed sex chromosome mosaicism.
作者信息
Nocera G, Dalpra' L, Tibiletti M G, Buscaglia M
出版信息
Prenat Diagn. 1985 May-Jun;5(3):169-74. doi: 10.1002/pd.1970050302.
PMID:4022940
Abstract
Prenatal detection of chromosome mosaicism is a relatively rare phenomenon and always constitutes a diagnostic problem. The difficulties are much more when the mosaics involve the sex chromosomes, because of the large phenotypic variability in individuals with these abnormalities. We studied 5 cases of true mosaics, 4 of these were prenatally detected, while 1 case was revealed only in the fetal lymphocytes after induced abortion. The limits of amniotic fluid culture with regard to the diagnosis of true mosaics and the difficulties arising in genetic counselling are discussed.
摘要
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