title: Duplication 4q associated with chronic cholestatic changes in liver biopsy.
abstract: 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.
authors.affiliation: Gazi University Faculty of Medicine, Department of Pediatric Gastroenterology, Ankara, Turkey. odulmd2003@yahoo.com
authors.forename: Odul
authors.initials: O
authors.lastname: Egritas
authors.forename: Busranur
authors.initials: B
authors.lastname: Cavdarli
authors.forename: Buket
authors.initials: B
authors.lastname: Dalgic
authors.forename: Mehmet Ali
authors.initials: MA
authors.lastname: Ergun
authors.forename: Ferda
authors.initials: F
authors.lastname: Percin
authors.forename: Monika
authors.initials: M
authors.lastname: Ziegler
authors.forename: Beate
authors.initials: B
authors.lastname: Pohle
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
mesh_terms: D001706:Biopsy; D002779:Cholestasis / Q000235:genetics* / Q000473:pathology*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D008099:Liver / Q000473:pathology*; D010641:Phenotype; D014178:Translocation, Genetic; D014314:Trisomy