title: [Maternal uniparental disomy 14; differential diagnosis with Prader-Willi syndrome].
abstract: BACKGROUND
  Maternal uniparental disomy 14 is a rare genetic disorder in which both chromosomes 14 are maternally inherited. The disorder is characterised by neonatal hypotonia and feeding difficulties, intrauterine or later growth retardation, truncal obesity and precocious puberty. During the neonatal period its clinical phenotype shows great similarities with that of Prader-Willi syndrome.
  
  
  METHODS
  We describe two patients with dysmaturity, neonatal hypotonia and feeding difficulties who initially showed clinical signs of Prader-Willi syndrome. However, molecular testing for this disorder was normal. Some years later, additional molecular testing confirmed the diagnosis of maternal uniparental disomy 14.
  
  
  CONCLUSIONS
  Maternal uniparental disomy 14 shows many phenotypic similarities with Prader-Willi syndrome. In a hypotonic neonate, molecular testing for maternal uniparental disomy 14 should therefore be considered if Prader-Willi syndrome has been excluded.
authors.affiliation: VUmc, afd. Klinische genetica, Amsterdam.
authors.forename: Saskia
authors.initials: S
authors.lastname: Tamminga
authors.forename: Susanne E
authors.initials: SE
authors.lastname: Stalman
authors.forename: Gerdine A
authors.initials: GA
authors.lastname: Kamp
authors.forename: Yvonne M C
authors.initials: YM
authors.lastname: Hendriks
authors.forename: A C Lia
authors.initials: AC
authors.lastname: Knegt
authors.forename: M W Mariet
authors.initials: MW
authors.lastname: Elting
mesh_terms: D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics; D024182:Uniparental Disomy / Q000175:diagnosis* / Q000235:genetics