title: [Detection of a fetus with paternally derived 2q37.3 microdeletion and 20p13p12.2 microduplication using whole genome microarray technology].
abstract: OBJECTIVE
  To perform prenatal diagnosis for a fetus with multiple malformations.
  
  
  METHODS
  The fetus was subjected to routine karyotyping and whole genome microarray analysis. The parents were subjected to high-resolution chromosome analysis.
  
  
  RESULTS
  Fetal ultrasound at 28+4 weeks has indicated intrauterine growth restriction, left kidney agenesis, right kidney dysplasia, ventricular septal defect, and polyhydramnios. Chromosomal analysis showed that the fetus has a karyotype of 46,XY,der(2),der(20), t(2;20)(q37.3;p12.2), t(5;15) (q12.2;q25) pat. SNP array analysis confirmed that the fetus has a 5.283 Mb deletion at 2q37.3 and a 11.641 Mb duplication at 20p13p12.2. High-resolution chromosome analysis suggested that the father has a karyotype of 46,XY,t(2;20)(q37.3;p12.2),t(5;15)(q12.2;q25), while the mother has a normal karyotype.
  
  
  CONCLUSIONS
  The abnormal phenotype of the fetus may be attributed to a 2q37.3 microdeletion and a 20p13p12.2 microduplication. The father has carried a complex translocation involving four chromosomes. To increase the chance for successful pregnancy, genetic diagnosis and/or assisted reproductive technology are warranted.
authors.affiliation: Prenatal Diagnosis Center, Peking University People's Hospital, Beijing 100044, China. happyxh713@sina.com.
authors.forename: Lin
authors.initials: L
authors.lastname: Zhang
authors.forename: Meihong
authors.initials: M
authors.lastname: Ren
authors.forename: Guining
authors.initials: G
authors.lastname: Song
authors.forename: Xuexia
authors.initials: X
authors.lastname: Liu
authors.forename: Jianliu
authors.initials: J
authors.lastname: Wang
authors.forename: Xiaohong
authors.initials: X
authors.lastname: Zhang
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002872:Chromosome Deletion; D002875:Chromosomes / Q000235:genetics*; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D020440:Gene Duplication / Q000235:genetics*; D006801:Humans; D007621:Karyotyping / Q000379:methods; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods