Diploid-triploid and tetraploid mosaicism in a child with cryptogenic cirrhosis and membranous glomerulonephritis: a causal relationship or coincidental association?

TOPALOĞLU R., Aktaş D., Bakkaloǧlu A., Balci S., DOĞRU ERSÖZ D., Öztürk R.

Turkish Journal of Pediatrics, cilt.40, sa.1, ss.139-143, 1998 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 40 Sayı: 1
  • Basım Tarihi: 1998
  • Dergi Adı: Turkish Journal of Pediatrics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.139-143
  • Anahtar Kelimeler: Cryptogenic cirrhosis, Membranous glomerulonephritis, Mosaicism, Tetraploidy, Triploidy
  • Hacettepe Üniversitesi Adresli: Evet

Özet

We present a seven-year-old boy with cryptogenic cirrhosis, membranous glomerulonephritis, mild mental retardation and mild dysmorphic changes. Chromosomal analysis showed diploid, triploid and tetraploid mosaicism which was detected both by cytogenetic study and flow cytometric analysis of nuclear DNA content Complete tetraploidy and triploidy, usually lethal, are rare chromosomal disorders. This is the first reported case of diploid-triploid-tetraploid mosaicism with cryptogenic cirrhosis and membranous glomerulonephritis.