Severe hypospadias associated with Robertsonian translocation

Kilic N., Balkan E., Saglam H., Yakut T., Dogruyol H.

UROLOGIA INTERNATIONALIS, cilt.74, sa.4, ss.373-376, 2005 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 74 Sayı: 4
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1159/000084443
  • Dergi Adı: UROLOGIA INTERNATIONALIS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.373-376
  • Anahtar Kelimeler: hypospadias, Robertsonian translocation, AMNIOCENTESIS, CARRIERS, REARRANGEMENTS, RATES
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

In this study, we report a 3-year-old boy with severe scrotal hypospadias with Robertsonian translocation [45, XY, t(13q;14q)]. The patient was born at term with a low birth weight and hypospadias. There was no endocrinological abnormality. His father also has a balanced 13-14 Robertsonian translocation. Two-stage hypospadias repair was carried out. The presence of this chromosomal anomaly and hypospadias are unique to our patient, compared to others with the 45, XY, t( 13q; 14q) translocation. Although no such association has been reported so far, we thought that severe hypospadias in this case might be associated with this translocation. Copyright (c) 2005 S. Karger AG, Basel.