title: Partial chromosome deletion: a new trisomy rescue mechanism?
abstract: OBJECTIVE
  We described a first case of a fetus with multiple congenital malformations associated with full trisomy 5 on direct CVS analysis and a partial trisomy 5 after cell culture.
  
  
  METHODS
  CVS karyotype (direct examination and culture) was performed after ultrasound examination and genetic counseling.
  
  
  RESULTS
  Direct CVS preparation showed a female karyotype with a homogeneous entire chromosome 5 trisomy, and karyotype of cultured CVS showed partial chromosome 5 trisomy, with an extra chromosome resulting from a deleted chromosome 5: 47,XX,del(5q31),+5. Only macroscopic examination could be performed because parents decided against postmortem examination and further analysis.
  
  
  CONCLUSIONS
  After a brief literature review, we argue that all de novo large chromosome deletions need to be considered as potentially associated with a trisomy rescue and uniparental disomy.
authors.affiliation: Department of Cytogenetics, CHI Poissy-St-Germain, Poissy, France. fvialard@hotmail.com
authors.forename: F
authors.initials: F
authors.lastname: Vialard
authors.forename: D
authors.initials: D
authors.lastname: Molina-Gomes
authors.forename: E
authors.initials: E
authors.lastname: Quarello
authors.forename: B
authors.initials: B
authors.lastname: Leroy
authors.forename: Y
authors.initials: Y
authors.lastname: Ville
authors.forename: J
authors.initials: J
authors.lastname: Selva
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D037881:Aborted Fetus / Q000473:pathology; D000328:Adult; D015193:Chorionic Villi Sampling; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006801:Humans; D011247:Pregnancy; D014314:Trisomy / Q000235:genetics*; D024182:Uniparental Disomy