FEMALE PHENOTYPE AND MULTIPLE ABNORMALITIES IN SIBS WITH A Y-CHROMOSOME AND PARTIAL X-CHROMOSOME DUPLICATION - H-Y-ANTIGEN AND XG BLOOD-GROUP FINDINGS

被引：83

作者：

BERNSTEIN, R

JENKINS, T

DAWSON, B

WAGNER, J

DEWALD, G

KOO, GC

WACHTEL, SS

机构：

[1] UNIV WITWATERSRAND, DEPT PEDIAT, JOHANNESBURG 2001, SOUTH AFRICA

[2] MAYO CLIN & MAYO FDN, DEPT MED GENET, ROCHESTER, MN 55901 USA

[3] CORNELL UNIV, MED CTR, NEW YORK HOSP, DEPT PEDIAT, NEW YORK, NY 10021 USA

[4] MEM SLOAN KETTERING CANC CTR, NEW YORK, NY 10021 USA

来源：

关键词：

D O I：

10.1136/jmg.17.4.291

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：291 / 300

页数：10

共 39 条

[1] [Anonymous], 1976, HDB ENZYME ELECTROPH
[2] X-15 TRANSLOCATION IN A RETARDED GIRL - X INACTIVATION PATTERN AND ATTEMPT TO LOCALIZE THE HEXOSAMINIDASE-A AND OTHER LOCI
BERNSTEIN, R
DAWSON, B
KOHL, R
JENKINS, T
[J]. JOURNAL OF MEDICAL GENETICS, 1979, 16 (04) : 254 - 262
[3] X-Y TRANSLOCATION IN A RETARDED PHENOTYPIC MALE - CLINICAL, CYTOGENETIC, BIOCHEMICAL, AND SERO-GENETIC STUDIES
BERNSTEIN, R
WAGNER, J
ISDALE, J
NURSE, GT
LANE, AB
JENKINS, T
[J]. JOURNAL OF MEDICAL GENETICS, 1978, 15 (06) : 466 - 474
[4] RECESSIVE SEX-DETERMINING GENES IN HUMAN XX MALE SYNDROME
CHAPELLE, ADL
KOO, GC
WACHTEL, SS
[J]. CELL, 1978, 15 (03) : 837 - 842
[5] DEWALD GW, 1977, AM J HUM GENET, V29, P37
[6] DUTRILLAUX B, 1973, CR ACAD SCI D NAT, V276, P3179
[7] Ford C E, 1970, J Biosoc Sci Suppl, V2, P7
[8] FREDGA K, 1977, HEREDITAS, V85, P101
[9] GENETICALLY DETERMINED SEX-REVERSAL IN 46,XY HUMANS
GERMAN, J
SIMPSON, JL
CHAGANTI, RSK
SUMMITT, RL
REID, LB
MERKATZ, IR
[J]. SCIENCE, 1978, 202 (4363) : 53 - 56
[10] ABSENCE OF H-Y ANTIGEN IN XY FEMALES WITH DYSGENETIC GONADS
GHOSH, SN
SHAH, PN
GHARPURE, HM
[J]. NATURE, 1978, 276 (5684) : 180 - 181