Reeser S L, Donnenfeld A E, Miller R C, Sellinger B S, Emanuel B S, Driscoll D A
Department of Obstetrics and Gynecology, Pennsylvania Hospital, Philadelphia.
Prenat Diagn. 1994 Nov;14(11):1029-34. doi: 10.1002/pd.1970141104.
Cytogenetic studies of cultured amniocytes demonstrated a karyotype of 46,XX/47,XX, +mar. A bisatellited, dicentric, distamycin-DAPI negative, NOR-positive marker was present in 76 per cent of the metaphases examined. Similar markers have been associated with cat eye syndrome (CES). We report on the utilization of fluorescence in situ hybridization (FISH) with a 14/22 alpha-satellite probe and a chromosome 22-specific cosmid for locus D22S9 to determine the origin of the prenatally detected supernumerary marker chromosome. FISH studies demonstrated that the marker is a derivative of chromosome 22 and enabled us to provide the family with additional prognostic information.
对培养的羊膜细胞进行的细胞遗传学研究显示核型为46,XX/47,XX, +mar。在所检查的76%的中期相中存在一个双随体、双着丝粒、地霉素-DAPI阴性、核仁组织区阳性的标记物。类似的标记物与猫眼综合征（CES）有关。我们报告了利用荧光原位杂交（FISH）技术，使用14/22α-卫星探针和针对位点D22S9的22号染色体特异性黏粒，来确定产前检测到的额外标记染色体的起源。FISH研究表明该标记物是22号染色体的衍生物，并使我们能够为该家庭提供额外的预后信息。
