title: Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature.
abstract: BACKGROUND
  Ultrasound examination performed on a 32-year old woman at 30 weeks' gestation showed the presence of fetal malformations. Amniocentesis was performed.
  
  
  RESULTS
  Cytogenetic analysis of cultured amniocytes revealed an interstitial deletion of the long arm of chromosome 5. Molecular studies confirmed that the deletion included the 5q15-21.3 region and was 14 Mb in size. Therefore, the karyotype was: 46,XY,del(5)(q15q21.3). In addition, analysis of polymorphic DNA markers showed that the deletion was of paternal origin.
  
  
  CONCLUSIONS
  The pregnancy was terminated at 34 weeks' gestation. At autopsy, the fetus displayed dysmorphic features, thin limbs and renal abnormalities. The clinical findings observed in the fetus as well as in 20 cases reported previously allowed us to further delineate the phenotype of such interstitial 5q15q21.3 deletions.
authors.affiliation: Service de Cytogénétique et d'Embryologie, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
authors.forename: Valérie
authors.initials: V
authors.lastname: Malan
authors.forename: Jelena
authors.initials: J
authors.lastname: Martinovic
authors.forename: Damien
authors.initials: D
authors.lastname: Sanlaville
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Caillat
authors.forename: Marie-Christine Perrier
authors.initials: MC
authors.lastname: Waill
authors.forename: Marie-Laure Maurin
authors.initials: ML
authors.lastname: Ganne
authors.forename: Julia
authors.initials: J
authors.lastname: Tantau
authors.forename: Tania
authors.initials: T
authors.lastname: Attie-Bitach
authors.forename: Michel
authors.initials: M
authors.lastname: Vekemans
authors.forename: Nicole
authors.initials: N
authors.lastname: Morichon-Delvallez
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis