title: [Genetic analysis of a patient featuring developmental delay and mental retardation].
abstract: OBJECTIVE
  To explore the genetic cause for a child featuring developmental delay and mental retardation.
  
  
  METHODS
  The child was analyzed with G-banded karyotyping and an Illumina Human CytoSNP-12 Beadchip.
  
  
  RESULTS
  The father of the patient had a normal karyotype. The mother had a karyotype of 46, XX, t(12;15)(p13.3;q13). The child had a karyotype of 45, XY, der(12)t(12;15)(p13.3;q13)mat, -15. SNP array analysis showed that the child has deletions in 12p13.31-p13.33 and 15q11.2-q13.2. But no deletion or duplication was detected in his mother.
  
  
  CONCLUSIONS
  The unbalanced translocation involving chromosomes 12 and 15 probably accounts for the mental retardation in the child. SNP array is useful for the detection of chromosomal rearrangements and genetic counseling.
authors.affiliation: Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
authors.forename: Nan
authors.initials: N
authors.lastname: Bai
authors.forename: Yifan
authors.initials: Y
authors.lastname: Liu
authors.forename: Shiyue
authors.initials: S
authors.lastname: Mei
authors.forename: Xiangdong
authors.initials: X
authors.lastname: Kong
mesh_terms: D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic