Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3.
We report on a 2-year-old girl with situs ambiguus comprising right-sided stomach and spleen, left-sided liver and complex cardiac defect. Psychomotor development of this patient was normal, and no other major abnormalities were present. Chromosome analysis revealed a de novo balanced chromosome translocation t(X;1)(q26;p13.1). Molecular cytogenetic investigations identified a breakpoint spanning BAC clone on the X-chromosome containing the ZIC3 gene. Mutations in ZIC3 are associated with situs ambiguus and cardiac defects predominantly in males. This is the first report of a live born girl with an X-autosome translocation involving the ZIC3 region.
Tzschach
Andreas
A
Department Ropers, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany. tzschach@molgen.mpg.de
Hoeltzenbein
Maria
M
Hoffmann
Kirsten
K
Menzel
Corinna
C
Beyer
Alexander
A
Ocker
Volker
V
Wurster
Goetz
G
Raynaud
Martine
M
Ropers
Hans-Hilger
HH
Kalscheuer
Vera
V
Heilbronner
Helmut
H
D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1; D041321:Chromosomes, Human, X; D005260:Female; D005318:Fetal Heart / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006331:Heart Diseases / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D011859:Radiography; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*
D018398:Homeodomain Proteins; D014157:Transcription Factors; C491595:ZIC3 protein, human