title: [Prenatal genetic analysis of two fetuses with Miller-Dieker syndrome].
abstract: OBJECTIVE
  To perform molecular cytogenetic study on two fetuses with abnormal ultrasound findings and analyze their genotype-phenotype correlation.
  
  
  METHODS
  G-banded karyotyping, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed on amniotic fluid cells from both fetuses and peripheral blood samples from their parents. Results of SNP array were analyzed with bioinformatics software.
  
  
  RESULTS
  G-banded karyotyping failed to detect any abnormalities in both fetuses and their parents. SNP array detected a 2.484 Mb terminal deletion at 17p13.3 [arr[hg19] 17p13.3 (83 035-2 567 405)×1] in fetus 1 and a 3.295 Mb terminal deletion at 17p13.3p13.2 [arr[hg19] 17p13.3p13.2 (83 035- 3 377 560)×1] in fetus 2. Both deletions have overlapped with the critical region of Miller-Dieker syndrome (MDS) and involved candidate genes such as PAFAH1B1, YWHAE and CRK. In addition, SNP array and FISH analyses on the parental peripheral blood samples demonstrated that both 17p13.3 and 17p13.3p13.2 deletions were of de novo origin. Metaphase FISH performed on amniotic fluid cells confirmed the presence of 17p13.3 and 17p13.3p13.2 deletions detected by the SNP array, while metaphase FISH performed on the parents excluded any potential chromosome rearrangements.
  
  
  CONCLUSIONS
  Abnormal ultrasound features for fetuses with MDS mainly include central nervous system anomalies. SNP array can efficiently detect 17p13.3 microdeletions underlying MDS, and accurately map the breakpoints and involved genes, which may facilitate understanding of the genotype and phenotype correlations for MDS.
authors.affiliation: Fetal Medicine Center, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080,China. zhouyifm@163.com.
authors.forename: Shaobin
authors.initials: S
authors.lastname: Lin
authors.forename: Yanmin
authors.initials: Y
authors.lastname: Luo
authors.forename: Jianzhu
authors.initials: J
authors.lastname: Wu
authors.forename: Baojiang
authors.initials: B
authors.lastname: Chen
authors.forename: Yuanjun
authors.initials: Y
authors.lastname: Ji
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhou
mesh_terms: D002871:Chromosome Banding; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D054221:Classical Lissencephalies and Subcortical Band Heterotopias / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D016216:Ultrasonography, Prenatal / Q000379:methods*