Situs ambiguus in a female fetus with balanced (X;21) translocation – evidence for functional nullisomy of the ZIC3 gene?

The human ZIC3 gene has been mapped to Xq26.2, the visceral heterotaxy locus HTX1 , and has been shown to be mutated in X-linked situs ambiguus and/or complex heart defects. We report on a female fetus with situs ambiguus , asplenia and corrected transposition of the great arteries, displaying a (X;...

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Veröffentlicht in:	European journal of human genetics : EJHG 2005-01, Vol.13 (1), p.34-40
Hauptverfasser:	Fritz, Barbara, Kunz, Jürgen, Knudsen, Gun Peggy Strømstad, Louwen, Frank, Kennerknecht, Ingo, Eiben, Bernd, Ørstavik, Karen Helene, Friedrich, Ursula, Rehder, Helga
Format:	Artikel
Sprache:	eng
Schlagworte:	Bioinformatics Biological and medical sciences Biomedical and Life Sciences Biomedicine Chromosome aberrations Chromosomes, Human, Pair 21 Chromosomes, Human, X Cytogenetics Dosage Compensation, Genetic Female Fetal Heart - abnormalities Fetal Heart - diagnostic imaging Gene Expression Genomic Imprinting Homeodomain Proteins Human Genetics Humans In Situ Hybridization, Fluorescence Karyotyping Medical genetics Medical sciences Middle Aged Polymerase Chain Reaction Radiography Receptors, Androgen - genetics Sex Chromosome Aberrations Situs Inversus - genetics Transcription Factors - genetics Translocation, Genetic - genetics Zinc Fingers - genetics
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