Cytogenetic and clinical studies of a male infant with disorder of sexual development: case report.
OBJECTIVE
To report a translocation between chromosomes 3 and 4: 46,XY,t(3;4)(p25;q31.3) in a male infant with a disorder of sexual development.


METHODS
Case report.


METHODS
University hospital.


METHODS
A 1-year-old infant who presented with abnormal location of the urethral meatus.


METHODS
Cytogenetic analysis, fluorescence in situ hybridization (FISH), and serum concentrations measurement (using peripheral blood), and clinical examination.


METHODS
Karyotype and clinical findings.


RESULTS
On clinical examination, bilateral testicular volume and phallus were determined to be undersized. Serum concentrations of T and DHEAS were low. G-banding of his chromosomes showed that the patient had a balanced translocation involving chromosomes 3 and 4: 46,XY,t(3;4)(p25;q31.3). This karyotype finding was confirmed by FISH. The FISH analysis revealed the presence of sex-determining region (SRY). The proband inherited this translocation from his father. His sister had the same translocation. However, the father and sister of the proband were clinically normal.


CONCLUSIONS
The presence of this chromosomal anomaly and hypospadias was unique to our patient compared with others with the 46,XY,t(3;4) translocation. Although no such association has been reported to date, we think that the severe hypospadias in our case might be associated with this translocation.
Balkan
Mahmut
M
Department of Medical Biology, Medical Faculty, University of Dicle, Diyarbakir, Turkey. mahbal@dicle.edu.tr
Duran
Hatun
H
Onen
Abdurrahman
A
Oral
Diclehan
D
Isi
Hilmi
H
Fidanboy
Mehmet
M
Alp
M Nail
MN
Budak
Turgay
T
D002871:Chromosome Banding; D020223:Chromosome Painting; D002893:Chromosomes, Human, Pair 3; D002894:Chromosomes, Human, Pair 4; D003687:Dehydroepiandrosterone / Q000097:blood; D006061:Gonadal Dysgenesis, 46,XY / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D007223:Infant; D008297:Male; D010375:Pedigree; D010413:Penis / Q000002:abnormalities; D051876:Sex-Determining Region Y Protein / Q000235:genetics; D013737:Testis / Q000002:abnormalities; D013739:Testosterone / Q000031:analogs & derivatives / Q000097:blood; D014178:Translocation, Genetic
C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D013739:Testosterone; D003687:Dehydroepiandrosterone; C013915:boldenone