title: An unusual association of hypospadias with partial deletion of chromosome 1q.
abstract: OBJECTIVE
  To report an unusual finding of chromosome 1q deletion in a man with failed multiple hypospadias repair.
  
  
  METHODS
  Case report and discussion.
  
  
  METHODS
  An academic tertiary care hospital.
  
  
  METHODS
  A 32-year-old man with failed multiple hypospadias repair.
  
  
  METHODS
  Clinical, hormonal, cytogenetic evaluation, fluorescent in situ hybridization (FISH), and ultrasonography.
  
  
  METHODS
  Serum gonadotropin and testosterone levels, and karyotype showing structural abnormality of long arm of chromosome 1.
  
  
  RESULTS
  Ultrasonography showed the absence of the left testis and a hypoechoic right testis. Serum luteinizing hormone and follicular stimulating hormone levels were raised, but testosterone and prolactin levels were within the normal range for adult men. Karyotype analysis revealed an interstitial deletion of the long arm of chromosome 1, which was confirmed by FISH.
  
  
  CONCLUSIONS
  Chromosome 1 may harbor a critical domain that is essential for male fertility.
authors.affiliation: Laboratory of Cyto-Molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Preeti
authors.initials: P
authors.lastname: Paliwal
authors.forename: Arundhati
authors.initials: A
authors.lastname: Sharma
authors.forename: Jayaprakash
authors.initials: J
authors.lastname: Sahoo
authors.forename: Ariachery Chinamma
authors.initials: AC
authors.lastname: Ammini
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1; D006801:Humans; D007021:Hypospadias / Q000235:genetics* / Q000601:surgery; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D017211:Treatment Failure