Duplication 4q associated with chronic cholestatic changes in liver biopsy

EĞRİTAŞ GÜRKAN Ö., Cavdarli B., DALGIÇ B., ERGÜN M. A., PERÇİN F. E., Ziegler M., ...More

EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.53, no.6, pp.411-414, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 53 Issue: 6
  • Publication Date: 2010
  • Doi Number: 10.1016/j.ejmg.2010.08.008
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.411-414
  • Keywords: Neonatal cholestasis, Trisomy 4q, Duplication 4q, PARTIAL TRISOMY 4Q, HUMAN-CHROMOSOMES, DEFECTS, FISH, 22Q
  • Gazi University Affiliated: Yes


We report a 15-day-old girl with partial trisomy 4q syndrome who presented with neonatal cholestasis. She had dysmorphic facial features and preaxial polysyndactyly of the right hand. The other findings were generalized hypertrichosis, pes equinovarus, oedema on feet and mild hepatomegaly. No specific reason for the cholestasis with elevated liver enzymes and direct bilirubinemia were characterized. Cytogenetic analyses revealed a karyotype 46,XX,der(13)t(4;13)(q25;p13). This is the first patient with partial trisomy 4q syndrome presented with neonatal cholestasis. (C) 2010 Elsevier Masson SAS. All rights reserved.