A novel sex-determining region on Y (SRY) nonsense mutation identified in a 45,X/47,XYY female

Fertility and Sterility

Volumn 72, Issue 1, 1999, Pages 167-169

  Takagi, Atsushi ^a   Imai, Atsushi ^a   Tamaya, Teruhiko ^a  

^a GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

45,X 47,XYY mosaicism; DNA sequence; Mutant SRY; Y chromosome

Indexed keywords

DNA; NUCLEOTIDE; THYMINE; TYROSINE;

ARTICLE; CASE REPORT; CHROMOSOME MOSAICISM; DNA SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GENE MAPPING; GONADAL DYSGENESIS; HUMAN; NONSENSE MUTATION; PRIORITY JOURNAL; SEX DIFFERENTIATION DISORDER; STOP CODON;

AMINO ACID SEQUENCE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; FRAMESHIFT MUTATION; HUMANS; MOSAICISM; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; SEX-DETERMINING REGION Y PROTEIN; TRANSCRIPTION FACTORS; TURNER SYNDROME; XYY KARYOTYPE;

EID: 0033168760     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0015-0282(99)00168-5     Document Type: Article

References (4)

1. Fechner P. The role of SRY in mammalian sex determination. Acta Paediatr Jpn. 38:1996;380-389.
2. Hsu L. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet. 53:1994;108-140.
3. Imai A., Horibe S., Takagi H., Takagi A., Tamaya T. Detection of SRY in 45,X/47,XYY mosaicism leading to phenotypic female. Clin Genet. 51:1997;124-126.
4. Hines R., Hansen K., Tho S., Khan I., Zhang Y., McDonough P., et al. Paternal somatic and germ-line mosaicism for a sex-determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal. Fertil Steril. 67:1997;675-679.