Prenatal diagnosis of 46,XX male fetuses.
Ultrasonography can accurately determine phenotypic sex differences from those of the genetic sex. Two cases were identified; they were the result of a translocation of the SRY gene from the Y chromosome to the X chromosome during meiosis. An ultrasonographic difference may represent an otherwise unsuspected genetic abnormality.
Ginsberg
N A
NA
Department of Obstetrics and Gynecology, the Division of Medical Genetics, Northwestern Memorial Hospital, Chicago, Illinois, USA.
Cadkin
A
A
Strom
C
C
Bauer-Marsh
E
E
Verlinsky
Y
Y
D000328:Adult; D000649:Amniocentesis; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D006059:Gonadal Dysgenesis / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D008297:Male; D009687:Nuclear Proteins; D010641:Phenotype; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D012729:Sex Chromosome Aberrations / Q000000981:diagnostic imaging*; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014178:Translocation, Genetic; D016216:Ultrasonography, Prenatal; D014960:X Chromosome
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors