Article
Duplication 4q associated with chronic cholestatic changes in liver biopsy.
European journal of medical genetics - 1 Jan 2000
Egritas Odul, Cavdarli Busranur, Dalgic Buket, Ergun Mehmet Ali, Percin Ferda, Ziegler Monika, Pohle Beate, Liehr Thomas
Abstract excerpt
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...
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