De novo reciprocal translocation t(5;11)(q22;p15) associated with hydrops fetalis (reciprocal translocation and hydrops fetalis)

Pala H. G., ARTUNÇ ÜLKÜMEN B., UYAR Y., Bal F., Baytur Y. B., Koyuncu F. M.

Fetal and Pediatric Pathology, cilt.34, sa.1, ss.44-48, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 34 Sayı: 1
  • Basım Tarihi: 2015
  • Doi Numarası: 10.3109/15513815.2014.962196
  • Dergi Adı: Fetal and Pediatric Pathology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.44-48
  • Anahtar Kelimeler: hydrops fetalis, reciprocal translocation, ultrasonography, prenatal diagnose
  • Manisa Celal Bayar Üniversitesi Adresli: Evet

Özet

Objective: This is a case of a prenatally diagnosed non-immune hydrops fetalis (NIHF) associated with translocation t(5;11)(q22;p15). An association between NIHF and this translocation has not been reported previously. Case Report: The patient was referred to the perinatology clinic with hydrops fetalis diagnosis at 23 weeks' gestation. We noted that the fetus had bilateral pleural effusion, ascites, widespread subcutaneous edema, membranous ventricular septal defect, hypoplastic fifth finger middle phalanx, clinodactyly, single umbilical artery. We performed cordocentesis. Chromosomal analysis on blood showed a balanced translocation between the long arm of chromosome 5 and the short arm of chromosome 11 with karyotype of 46,XX,t(5;11)(q22;p15). Conclusion: We present prenatal diagnosis of a de novo translocation (5;11) in a hydropic fetus with ultrason abnormalities. In our case, karyotype analysis of the fetus, mother and father provided evidence of a de novo translocation, that might explain the NIHF.