title: Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation.
abstract: BACKGROUND
  Prader-Willi syndrome, due to microdeletion of proximal 15q, is a well-known cause of syndromic obesity.
  
  
  METHODS
  A couple with history of repeated first trimester abortions had a son with balanced Robertsonian translocation of chromosomes 13 and 15 according to cytogenetic banding technique.
  
  
  RESULTS
  Chromosomal analysis for the couple was performed. A balanced translocation involving BP1-BP3 region of proximal 15q was observed in the father.
  
  
  CONCLUSIONS
  Investigations of the parents is mandatory when a structural rearrangement is detected in a dysmorphic child.
authors.affiliation: FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015 India.
authors.forename: Frenny
authors.initials: F
authors.lastname: Sheth
authors.affiliation: Jena University Hospital, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.affiliation: FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015 India.
authors.forename: Krati
authors.initials: K
authors.lastname: Shah
authors.affiliation: FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015 India.
authors.forename: Jayesh
authors.initials: J
authors.lastname: Sheth
keywords: Deletion; FISH; Prader-Willi syndrome; Structural rearrangement; Unbalanced translocation; sSMC