OPITZ-SYNDROME IS GENETICALLY HETEROGENEOUS, WITH ONE LOCUS ON XP22, AND A 2ND LOCUS ON 22Q11.2

被引:90
作者
ROBIN, NH
FELDMAN, GJ
ARONSON, AL
MITCHELL, HF
WEKSBERG, R
LEONARD, CO
BURTON, BK
JOSEPHSON, KD
LAXOVA, R
ALECK, KA
ALLANSON, JE
GUIONALMEIDA, ML
MARTIN, RA
LEICHTMAN, LG
PRICE, RA
OPITZ, JM
MUENKE, M
机构
[1] UNIV PENN,CHILDRENS HOSP PHILADELPHIA,SCH MED,DIV HUMAN GENET & MOLEC BIOL,PHILADELPHIA,PA 19104
[2] UNIV PENN,SCH MED,DEPT PEDIAT,PHILADELPHIA,PA 19104
[3] UNIV PENN,SCH MED,DEPT GENET,PHILADELPHIA,PA 19104
[4] UNIV PENN,SCH MED,DEPT PSYCHIAT,PHILADELPHIA,PA 19104
[5] HOSP SICK CHILDREN,DEPT GENET,TORONTO,ON M5G 1X8,CANADA
[6] UNIV UTAH,DEPT PEDIAT,SALT LAKE CITY,UT 84112
[7] MICHAEL REESE HOSP & MED CTR,CHICAGO,IL 60616
[8] GUNDERSON CLIN LTD,LA CROSSE REG GENET SERV,LA CROSSE,WI 54601
[9] UNIV WISCONSIN,WAISMAN CTR MENTAL RETARDAT,MADISON,WI 53705
[10] UNIV ARIZONA,DEPT PEDIAT,PHOENIX,AZ 85010
[11] UNIV ARIZONA,DEPT GENET,PHOENIX,AZ 85010
[12] CHILDRENS HOSP EASTERN ONTARIO,DEPT GENET,OTTAWA,ON K1H 8L1,CANADA
[13] UNIV SAO PAULO,HOSP PESQUISA & REABILITACAO LESOES LABIO PALATAI,BAURU,SP,BRAZIL
[14] UNIV CALIF IRVINE,MED CTR,DEPT PEDIAT,ORANGE,CA 92613
[15] EASTERN VIRGINIA MED SCH,DEPT PEDIAT,DIV GENET,NORFOLK,VA 23507
[16] FDN DEV & MED GENET,HELENA,MT 59601
关键词
D O I
10.1038/ng1295-459
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Opitz syndrome (OS, McKusick 145410)1 is a well described genetic syndrome affecting multiple organ systems whose cardinal manifestations include widely spaced eyes and hypospadias (Fig. 1). It was first reported as two separate entities, BBB syndrome2, and G syndrome3. However, subsequent reports of families in which the BBB and G syndrome segregated within a single kindred suggested that they were a single clinical entity4. Although the original pedigrees were consistent with X-linked and autosomal dominant inheritance, male-to-male transmission in subsequent reports5,6 suggested that OS was inherited as an autosomal dominant trait7. Here we report that OS is a heterogeneous disorder, with an X-linked and an autosomal locus. Three families were linked to DXS987 in Xp22, with a lod score of 3.53 at zero recombination. Five families were linked to D22S345 from chromosome 22q11.2, with a lod score of 3.53 at zero recombination. This represents the first classic multiple congenital anomaly syndrome with an X-linked and an autosomal form. © 1995 Nature Publishing Group.
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页码:459 / 461
页数:3
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