Duplication 4q associated with chronic cholestatic changes in liver biopsy.
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.
Egritas
Odul
O
Gazi University Faculty of Medicine, Department of Pediatric Gastroenterology, Ankara, Turkey. odulmd2003@yahoo.com
Cavdarli
Busranur
B
Dalgic
Buket
B
Ergun
Mehmet Ali
MA
Percin
Ferda
F
Ziegler
Monika
M
Pohle
Beate
B
Liehr
Thomas
T
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