An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16.
OBJECTIVE
To report a case of a 46,XX male with an insertion of the sex-determining region Y (SRY) region in the terminal end of the long arm of chromosome 16.


METHODS
Case report.


METHODS
Molecular and cytogenetic units in a university hospital.


METHODS
An infertile male, with normal masculinization of the external genitalia, who was referred for chromosomal analysis as an unaffected member of a family with idiopathic hypertrophic osteoarthropathy.


METHODS
Cytogenetic investigation, physical examination, and hormonal assays.


METHODS
Chromosomal analysis using GTG banding and fluorescence in situ hybridization (FISH).


RESULTS
Conventional chromosome analysis revealed a normal 46,XX karyotype. The FISH with bacterial artificial chromosomes (BACs) of the SRY region indicated the presence of this region on the terminal end of the long arm of chromosome 16.


CONCLUSIONS
This is the first case of a 46,XX male with the SRY gene present on an autosome-here chromosome 16. The size of the inserted region containing SRY, inserted in 16qter, is approximately 600 kb.
Dauwerse
Johannnes G
JG
Center for Human Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 AL Leiden, The Netherlands. dauw@lumc.nl
Hansson
Kerstin B M
KB
Brouwers
Ad A M
AA
Peters
Dorien J M
DJ
Breuning
Martijn H
MH
D002874:Chromosome Mapping; D022202:Chromosomes, Artificial, Bacterial; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D020732:Cytogenetic Analysis; D004251:DNA Transposable Elements; D023961:Gonadal Dysgenesis, 46,XX / Q000150:complications / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000209:etiology; D008297:Male; D008875:Middle Aged; D051876:Sex-Determining Region Y Protein / Q000235:genetics*
D004251:DNA Transposable Elements; D051876:Sex-Determining Region Y Protein