title: [Confirmation of a maternal cryptal balanced translocation through analysis of a fetus using microarray].
abstract: OBJECTIVE
  To analyze a fetus with heart defects and to assess the recurrence risk for her family.
  
  
  METHODS
  Single nucleotide polymorphism-based arrays (SNP-Array) analysis using Affymetrix Genome Wide Human SNP CytoHD was performed to analyze the fetus and her parents. Karyotype analysis was also carried out.
  
  
  RESULTS
  SNP-Array has detected a 14.5 Mb duplication at 9p and a 14.7 Mb deletion at 11q. Karyotype analysis indicated that the fetus' mother has a karyotype of 46, XX, t(9;11) (p23;q24). Therefore, the fetus has inherited a derivative chromosome 11 derived from the maternal translocation, and her karyotype was 46, XX, der(11) t(9;11) (p23;q24) mat.
  
  
  CONCLUSIONS
  SNP-Array combined with high resolution GTG banding has confirmed that the fetus has a derivative chromosome 11 derived from her mother's balanced translocation, resulting in partial 9p trisomy and partial 11q monosomy. This couple therefore have a high recurrence risk. SNP-Array is capable of detecting small chromosomal imbalance in abnormal fetuses and can pinpoint the breakpoints. It therefore has the advantage for the detection of unbalanced translocation which is difficult to detect with GTG banding, which is important for assessment the recurrence risk for cryptic balanced translocation carriers.
authors: Fetal Medicine Center, Department of Gynaecology and Obstetrics, The First Affiliated Hospital, Sun Yatsen University, Guangzhou, Guangdong 510080, P. R. China. Email: wujianzhu3140@126.com.
authors: Jianzhu
authors: J
authors: Wu
authors: Yingjun
authors: Y
authors: Xie
authors: Shaobin
authors: S
authors: Lin
authors: Baojiang
authors: B
authors: Chen
authors: Jiansheng
authors: J
authors: Chen
authors: Zhiqiang
authors: Z
authors: Zhang
authors: Yuanjun
authors: Y
authors: Ji
mesh_terms: D000328:Adult; D002880:Chromosomes, Human, Pair 11; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D020641:Polymorphism, Single Nucleotide; D014178:Translocation, Genetic