title: Euchromatic variant 16p+. Implications in prenatal diagnosis.
abstract: BACKGROUND
  Euchromatic imbalances at the cytogenetic level are usually associated with phenotypic consequences. Among the exceptions are euchromatic variants of chromosome 16 (16p+) with normal phenotype. There is a growing list of euchromatic duplications and deletions involving both G-positive and G-negative bands that seem to be phenotypically neutral, but these euchromatic variants are rare.
  
  
  OBJECTIVE
  The aim of this report is to describe a new familial case of euchromatic variant 16p+ and to emphasise the misinterpretation of these rare euchromatic variants particularly when ascertained at prenatal diagnosis.
  
  
  RESULTS
  Fluorescence in situ hybridisation with clone RP11-261A7 showed an amplified signal in the larger chromosome 16. This clone contains FLJ43855 gene, similar to sodium- and chloride-dependent creatine transporter.
  
  
  CONCLUSIONS
  So, this 16p+ variant that involves amplification of pseudogenetic sequences is considered a polymorphism in normal individuals.
authors.affiliation: Department of Medical Genetics, Hospital Universitario La Paz, Madrid, Spain.
authors.forename: I
authors.initials: I
authors.lastname: López Pajares
authors.forename: O
authors.initials: O
authors.lastname: Villa
authors.forename: M
authors.initials: M
authors.lastname: Salido
authors.forename: M A
authors.initials: MA
authors.lastname: Mori
authors.forename: A
authors.initials: A
authors.lastname: Gonzalez
authors.forename: P
authors.initials: P
authors.lastname: Lapunzina
authors.forename: M L
authors.initials: ML
authors.lastname: De Torres
authors.forename: I
authors.initials: I
authors.lastname: Vallcorba
authors.forename: M
authors.initials: M
authors.lastname: Palomares
authors.forename: L
authors.initials: L
authors.lastname: Fernández
authors.forename: A
authors.initials: A
authors.lastname: Delicado
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations / Q000196:embryology; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000196:embryology*; D002885:Chromosomes, Human, Pair 16; D022041:Euchromatin / Q000302:isolation & purification; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D022041:Euchromatin