title: Severe intrauterine growth restriction and trisomy 15 confined placental mosaicism: a case report and review of literature.
abstract: OBJECTIVE
  To correlate confined placental mosaicism (CPM) for trisomy 15 with severe intrauterine growth restriction (IUGR) and early death after birth (age of 6 months).
  
  
  METHODS
  Chromosome analysis was performed on amniotic fluid at 21st week of gestation, on peripheral blood at birth and on fibroblasts at death using conventional techniques. FISH was performed with Chromoprobe I-Multiprobe System kit and commercial probes according to manufacturer's protocol. DNA was extracted from parental and child peripheral blood, placenta tissue and skin fibroblasts, and UPD tests were done with microsatellites selected from Genome Data Base.
  
  
  RESULTS
  The child presented severe hypospadias, micropenis, bilateral cryptorchidism and bifid scrotum, inguinal hernia, dolichomegacolon, severe thymic lymphatic depletion and heart hypertrophy, mainly involving right ventricle. Mosaic trisomy 15 (84%) was discovered by FISH on placental biopsy at term. Uniparental disomy (UPD) for chromosome 15 was excluded. Prenatal (amniotic fluid), postnatal (peripheral blood) karyotypes and analysis on skin fibroblast metaphases were normal. Since the autopsy showed some features suggesting genetic syndromes, such as CATCH22, Williams-Beuren syndrome, matUPD2, we excluded the presence of all these diseases.
  
  
  CONCLUSIONS
  The only explanation for this clinical case seems to be the presence of tris15CPM that is reported as one of IUGR causes.
authors.affiliation: Department of Pathology, Medical Genetics Lab, HSGerardo, Monza, Italy.
authors.forename: Serena
authors.initials: S
authors.lastname: Redaelli
authors.forename: Elena
authors.initials: E
authors.lastname: Sala
authors.forename: Nadia
authors.initials: N
authors.lastname: Roncaglia
authors.forename: Carla
authors.initials: C
authors.lastname: Colombo
authors.forename: Francesca
authors.initials: F
authors.lastname: Crosti
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Villa
authors.forename: Paolo
authors.initials: P
authors.lastname: Tagliabue
authors.forename: Anna
authors.initials: A
authors.lastname: Cappellini
authors.forename: Leda
authors.initials: L
authors.lastname: Dalprà
mesh_terms: D000328:Adult; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D004247:DNA / Q000032:analysis; D003937:Diagnosis, Differential; D005260:Female; D005317:Fetal Growth Retardation / Q000150:complications / Q000175:diagnosis*; D005347:Fibroblasts; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009030:Mosaicism; D010375:Pedigree; D010920:Placenta; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy
chemical_list: D004247:DNA