VELO-CARDIO-FACIAL SYNDROME ASSOCIATED WITH CHROMOSOME-22 DELETIONS ENCOMPASSING THE DIGEORGE LOCUS

被引:364
作者
SCAMBLER, PJ
KELLY, D
LINDSAY, E
WILLIAMSON, R
GOLDBERG, R
SHPRINTZEN, R
WILSON, DI
GOODSHIP, JA
CROSS, IE
BURN, J
机构
[1] MONTEFIORE MED CTR,CTR CRANIOFACIAL DISORDERS,BRONX,NY 10467
[2] UNIV NEWCASTLE UPON TYNE,DIV HUMAN GENET & CYTOGENET,NEWCASTLE TYNE NE1 7RU,TYNE & WEAR,ENGLAND
关键词
D O I
10.1016/0140-6736(92)90734-K
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The large clinical overlap between DiGeorge syndrome and velo-cardio-facial syndrome suggests an aetiological connection. DiGeorge syndrome is associated with microdeletions of chromosome 22q11 and is therefore likely to be caused by reduced dosage of genes within this region. We present preliminary data that velocardiofacial syndrome patients have similar chromosome deletions, a finding consistent with the hypothesis that these disorders represent part of a spectrum of abnormalities seen with monosomy for 22q11.
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收藏
页码:1138 / 1139
页数:2
相关论文
共 10 条
[1]   LOCALIZATION OF 27 DNA MARKERS TO THE REGION OF HUMAN-CHROMOSOME 22Q11-PTER DELETED IN PATIENTS WITH THE DIGEORGE SYNDROME AND DUPLICATED IN THE DER22 SYNDROME [J].
CAREY, AH ;
ROACH, S ;
WILLIAMSON, R ;
DUMANSKI, JP ;
NORDENSKJOLD, M ;
COLLINS, VP ;
ROULEAU, G ;
BLIN, N ;
JALBERT, P ;
SCAMBLER, PJ .
GENOMICS, 1990, 7 (03) :299-306
[2]  
CAREY AH, 1991, THESIS U LONDON UK
[3]  
CAREY AH, IN PRESS MAMMAL GENO
[4]   HIGH-RESOLUTION MAPPING OF HUMAN CHROMOSOME-11 BY INSITU HYBRIDIZATION WITH COSMID CLONES [J].
LICHTER, P ;
TANG, CJC ;
CALL, K ;
HERMANSON, G ;
EVANS, GA ;
HOUSMAN, D ;
WARD, DC .
SCIENCE, 1990, 247 (4938) :64-69
[5]  
McKusick VA, 1990, MENDELIAN INHERITANC
[6]   MICRODELETIONS WITHIN 22Q11 ASSOCIATED WITH SPORADIC AND FAMILIAL DIGEORGE SYNDROME [J].
SCAMBLER, PJ ;
CAREY, AH ;
WYSE, RKH ;
ROACH, S ;
DUMANSKI, JP ;
NORDENSKJOLD, M ;
WILLIAMSON, R .
GENOMICS, 1991, 10 (01) :201-206
[7]  
SHARKEY AM, IN PRESS HUM GENET
[8]  
SHPRINTZEN RJ, 1990, BIRTH DEFECTS ENCY, P1744
[9]  
STEVENS CA, 1990, PEDIATRICS, V85, P526
[10]  
WILSON DI, 1991, BRIT HEART J, V66, P308