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....

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Published inEuropean journal of medical genetics Vol. 53; no. 6; pp. 411 - 414
Main Authors Egritas, Odul, Cavdarli, Busranur, Dalgic, Buket, Ergun, Mehmet Ali, Percin, Ferda, Ziegler, Monika, Pohle, Beate, Liehr, Thomas
Format Journal Article
LanguageEnglish
Published Netherlands Elsevier Masson SAS 01.11.2010
Subjects
Biopsy
Cholestasis - genetics
Cholestasis - pathology
Chromosome Aberrations
Chromosome Banding
Chromosomes, Human, Pair 4 - genetics
Duplication 4q
Female
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Karyotyping
Liver - pathology
Medical Education
Neonatal cholestasis
Phenotype
Translocation, Genetic
Trisomy
Trisomy 4q
Neonatal cholestasis
Duplication 4q
Trisomy 4q
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Summary: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.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2010.08.008