title: Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)].
abstract: OBJECTIVE
  To describe a Jewish family of Libyan ancestry in which autosomal dominant congenital cataract segregates with an apparently balanced reciprocal chromosomal translocation.
  
  
  METHODS
  Detailed family history and clinical data were recorded. Cytogenetic studies were performed on 13 family members.
  
  
  RESULTS
  Embryonal cataracts cosegregated through three generations with a balanced chromosomal translocation [t(3;5)(p22.3; p15.1)] while the unbalanced translocation product, 46,XY,-5,+der(5)t(3:5)(p22:p15.1), had multiple congenital anomalies without cataracts.
  
  
  CONCLUSIONS
  These observations suggest that an altered function of a gene at one of the translocation breakpoints on chromosome 3p22.3 or 5p15.1 is causally related to cataract development.
authors.affiliation: Department of Obstetrics and Gynecology, Georgetown University, Washington, DC, USA.
authors.forename: Emre
authors.initials: E
authors.lastname: Zafer
authors.forename: Jeanne
authors.initials: J
authors.lastname: Meck
authors.forename: Liora
authors.initials: L
authors.lastname: Gerrad
authors.forename: Elon
authors.initials: E
authors.lastname: Pras
authors.forename: Moshe
authors.initials: M
authors.lastname: Frydman
authors.forename: Orit
authors.initials: O
authors.lastname: Reish
authors.forename: Isaac
authors.initials: I
authors.lastname: Avni
authors.forename: Eran
authors.initials: E
authors.lastname: Pras
mesh_terms: D002386:Cataract / Q000151:congenital* / Q000196:embryology / Q000235:genetics*; D020090:Chromosome Segregation; D002893:Chromosomes, Human, Pair 3; D002895:Chromosomes, Human, Pair 5; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D007585:Jews / Q000235:genetics*; D008002:Libya; D010375:Pedigree; D014178:Translocation, Genetic