title: Cytogenetic and clinical studies of a male infant with disorder of sexual development: case report.
abstract: 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.
authors.affiliation: Department of Medical Biology, Medical Faculty, University of Dicle, Diyarbakir, Turkey. mahbal@dicle.edu.tr
authors.forename: Mahmut
authors.initials: M
authors.lastname: Balkan
authors.forename: Hatun
authors.initials: H
authors.lastname: Duran
authors.forename: Abdurrahman
authors.initials: A
authors.lastname: Onen
authors.forename: Diclehan
authors.initials: D
authors.lastname: Oral
authors.forename: Hilmi
authors.initials: H
authors.lastname: Isi
authors.forename: Mehmet
authors.initials: M
authors.lastname: Fidanboy
authors.forename: M Nail
authors.initials: MN
authors.lastname: Alp
authors.forename: Turgay
authors.initials: T
authors.lastname: Budak
mesh_terms: 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
chemical_list: C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D013739:Testosterone; D003687:Dehydroepiandrosterone; C013915:boldenone