title: Retrospective diagnosis of Pallister-Killian syndrome by CGH array.
abstract: OBJECTIVE
  We report a girl presenting with a polymalformation syndrome. Despite a normal karyotype on peripheral lymphocytes and the unavailability of cultured fibroblasts, a tetrasomy 12p was identified on pulmonary DNA extracted from a postmortem biopsy, by use of comparative genomic hybridization (CGH) and confirmed by CGH array. The clinical picture of our patient was consistent, but not specific of the diagnosis of Pallister-Killian syndrome. She presented with the association of antenatal polyhydramnios, craniofacial dysmorphic features, skeletal abnormalities, and a congenital cardiopathy.
  
  
  CONCLUSIONS
  We discuss the usefulness of CGH and CGH array in prenatal and constitutional cytogenetics.
authors.affiliation: Service d'Histologie Embryologie Cytogénétique BDR, Hôpital Jean Verdier, Bondy, AP-HP, UFR-USMBH, Paris XIII, France.
authors.forename: Andrée
authors.initials: A
authors.lastname: Delahaye
authors.forename: Eva
authors.initials: E
authors.lastname: Pipiras
authors.forename: Catherine
authors.initials: C
authors.lastname: Delorme-Vincent
authors.forename: Moncef
authors.initials: M
authors.lastname: Benkhalifa
authors.forename: Serdar
authors.initials: S
authors.lastname: Kasakyan
authors.forename: Louise
authors.initials: L
authors.lastname: Devisme
authors.forename: Jean-Philippe
authors.initials: JP
authors.lastname: Wolf
authors.forename: Brigitte
authors.initials: B
authors.lastname: Benzacken
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality; D000782:Aneuploidy; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009030:Mosaicism; D020411:Oligonucleotide Array Sequence Analysis; D013577:Syndrome