PRENATAL-DIAGNOSIS OF THE DERIVATIVE CHROMOSOME-22 ASSOCIATED WITH CAT EYE SYNDROME BY FLUORESCENCE IN-SITU HYBRIDIZATION

被引：2
|
作者：
REESER, SL
DONNENFELD, AE
MILLER, RC
SELLINGER, BS
EMANUEL, BS
DRISCOLL, DA
机构：
[1] PENN HOSP,DEPT OBSTET & GYNECOL,GENET SECT,PHILADELPHIA,PA 19107
[2] CHILDRENS HOSP PHILADELPHIA,DEPT PEDIAT,DIV HUMAN GENET & MOLEC BIOL,PHILADELPHIA,PA 19104
[3] UNIV PENN,MED CTR,DEPT OBSTET & GYNECOL,DIV REPROD GENET,PHILADELPHIA,PA 19104
来源：
PRENATAL DIAGNOSIS | 1994年 / 14卷 / 11期
关键词：
CAT EYE SYNDROME; CHROMOSOME; 22; FLUORESCENCE IN SITU HYBRIDIZATION; PRENATAL DIAGNOSIS;
D O I：
10.1002/pd.1970141104
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
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页码：1029 / 1034
页数：6
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