True hermaphroditism with partial duplication of chromosome 22 and without SRY.
We present the case of a patient with true hermaphroditism and partial duplication of chromosome 22. Cytogenetic evaluation showed no evidence of a Y chromosome in blood, skin, or gonadal tissue. Additional investigations using molecular probes showed no evidence of SRY. We conclude that there are genes on chromosome 22 that are involved in sex determination.
Aleck
K A
KA
Division of Medical and Molecular Genetics and Steele Memorial Children's Research Center, University of Arizona College of Medicine, Tucson, USA.
Argueso
L
L
Stone
J
J
Hackel
J G
JG
Erickson
R P
RP
D001483:Base Sequence; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009687:Nuclear Proteins; D019849:Sex Determination Processes; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors
D017931:DNA Primers; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors