Delozier-Blanchet C D, Engel E, Extermann P, Pastori B
Institute of Medical Genetics, University Hospital, Geneva, Switzerland.
Prenat Diagn. 1988 May;8(4):281-6. doi: 10.1002/pd.1970080406.
Cytogenetic study of chorionic villi sampled because of advanced maternal age revealed, after overnight culture, an apparently non-mosaic trisomy 7. Amniocentesis showed exclusively normal mitoses, and the pregnancy continued normally. One hundred mitoses from cord blood of the normal newborn revealed a non-mosaic 46,XX complement. No cells with a proven trisomy 7 were found in cultures from either of two biopsies of the morphologically normal placenta, but the peripheral biopsy showed in multiple cultures an abnormal clone: 47,XX, +20, -2, -21, +t(2;21)(p13;q22). To our knowledge, this is the first case of non-mosaic trisomy 7 detected on CVS which has had follow-up studies of amniotic fluid, cord blood, and term placenta.
因孕妇年龄较大而对绒毛膜绒毛进行的细胞遗传学研究显示，经过过夜培养后，发现了明显的非嵌合型7号染色体三体。羊水穿刺显示所有细胞分裂均正常，妊娠继续正常进行。对正常新生儿脐带血的100个细胞分裂进行检测，结果显示为非嵌合型46,XX核型。在形态正常的胎盘的两次活检培养物中，均未发现证实为7号染色体三体的细胞，但外周活检在多次培养中显示出一个异常克隆：47,XX, +20, -2, -21, +t(2;21)(p13;q22)。据我们所知，这是首例在绒毛取样检测中发现的非嵌合型7号染色体三体病例，且对羊水、脐带血和足月胎盘进行了后续研究。
