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., ...Daha Fazla

EUROPEAN JOURNAL OF MEDICAL GENETICS, cilt.53, sa.6, ss.411-414, 2010 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 53 Sayı: 6
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1016/j.ejmg.2010.08.008
  • Dergi Adı: EUROPEAN JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.411-414
  • Anahtar Kelimeler: Neonatal cholestasis, Trisomy 4q, Duplication 4q, PARTIAL TRISOMY 4Q, HUMAN-CHROMOSOMES, DEFECTS, FISH, 22Q
  • Gazi Üniversitesi Adresli: Evet

Özet

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.