title: Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability.
abstract: BACKGROUND
  Deletions including chromosome 15q24 have been delineated in recent years as a separate syndrome with phenotypic variability. Here we report a familial 15q24 deletion and further contribute to the phenotypic description of this syndrome.
  
  
  METHODS
  Molecular karyotyping and description of the phenotype of three patients in the same family with a 15q24 deletion.
  
  
  RESULTS
  Parental transmission of the 15q24 deletion syndrome is described in the same family. The affected, the father and his twin offspring, all exhibit the typical facial features, signs and symptoms consistent with the syndromic phenotype. A distinct phenotypic variability is nevertheless noted although they all share the same deletion.
  
  
  CONCLUSIONS
  These three patients are to our knowledge the first described cases of 15q24 syndrome in the same family. Urogenital malformations have previously been described as a part of this syndrome. Our adult male patient exhibits no such malformations but has a documented reduced fertility. This fact points to other factors such as haploinsufficiency of one and/or further genes on 15q24 as being responsible for the infertility. Array analysis could be considered as a first hand analysis in the investigation of cases of infertility and intellectual deficiency in adults in analogy to the existing consensus regarding cases of intellectual deficiency in children.
authors.affiliation: Department of Clinical Genetics, Sahlgrenska University Hospital, Sweden.
authors.forename: Lena
authors.initials: L
authors.lastname: Samuelsson
authors.affiliation: Department of Clinical Genetics, Sahlgrenska University Hospital, Sweden.
authors.forename: Theofanis
authors.initials: T
authors.lastname: Zagoras
authors.affiliation: Department of Pediatrics, Institute of Clinical Sciences, The Queen Silvia Children's Hospital, University of Gothenburg, Göteborg, Sweden; Department of Paediatrics, St. Olavs Hospital, Norway; Department of Laboratory Medicine, Children's and Women's Health, Norwegian University of Science and Technology, Trondheim, Norway. Electronic address: maria.hafstrom@vgregion.se.
authors.forename: Maria
authors.initials: M
authors.lastname: Hafström
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002884:Chromosomes, Human, Pair 15; D005220:Fathers; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014427:Twins / Q000235:genetics*
keywords: Chromosome deletion; Chromosome disorders; Chromosomes human pair 15; Intellectual disability; Microarray analysis