title: [Genetic diagnosis and analysis of related genes for a pedigree with 2p25 and 12p13 cryptic rearrangements].
abstract: OBJECTIVE
  To analyze chromosome aberration in a child with mental retardation and abnormalities and its parents.
  
  
  METHODS
  Chromosome G banding, multiplex ligation-dependent probe amplification, fluorescence in situ hybridization and single nucleotide polymorphisms array were employed for analysis.
  
  
  RESULTS
  Karyotype analysis revealed that the child was 46,XX and the father was 46,XY, while the mother was 46,XX, add (12)(p13). Subtelomeric region analysis with MLPA displayed that the child has reduced ACP1 gene copy number in 2p25 region and increased SLC6A12,KDM5A gene copy numbers in 12p11 region. SNP-array has fine mapped the duplication to 12p13.33-p12.3, a 15.142 Mb region, and a deletion to 2p25.3 for 3.194 Mb, which resulted in duplication of 9 genes including SLC6A12 as well as deletion of 11 genes including SNTG2, respectively. FISH analysis revealed that the child was 46,XX,ish,der(2),t(2;12)(p25;p13)mat, or partial monosomy 2p25 and partial trisomy 12p13. In addition,the mother was a carrier with cryptic balanced translocation chromosome, 46,XX,isht(2;12) (p25;p13). Mental abnormalities and retardation of the child may be attributed to heterozygous deletion of SNTG2, MYT1L genes and duplication of SLC6A12 gene.
  
  
  CONCLUSIONS
  Combined use of MLPA, FISH and SNP-array can facilitate accurate diagnosis of cryptic rearrangement at genomic level.
authors.affiliation: PLA Center for Laboratory Medicine, Fuzhou General Hospital of Nanjing Military Command, Fuzhou, Fujian 350025, P.R. China. tuxdmed@126.com.
authors.forename: Xiangdong
authors.initials: X
authors.lastname: Tu
authors.forename: Jian
authors.initials: J
authors.lastname: Zeng
authors.forename: Xuewen
authors.initials: X
authors.lastname: Cong
authors.forename: Aizhen
authors.initials: A
authors.lastname: Yan
authors.forename: Yuxang
authors.initials: Y
authors.lastname: Lin
authors.forename: Xiao
authors.initials: X
authors.lastname: Zhang
authors.forename: Liping
authors.initials: L
authors.lastname: Qiu
authors.forename: You
authors.initials: Y
authors.lastname: Zhou
authors.forename: Fenghua
authors.initials: F
authors.lastname: Lan
mesh_terms: D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005260:Female; D050485:GABA Plasma Membrane Transport Proteins; D015321:Gene Rearrangement; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D010375:Pedigree; D017027:Protein Tyrosine Phosphatases / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy; D055815:Young Adult
chemical_list: D002352:Carrier Proteins; D050485:GABA Plasma Membrane Transport Proteins; D011518:Proto-Oncogene Proteins; C072207:betaine plasma membrane transport proteins; C490429:ACP1 protein, human; D017027:Protein Tyrosine Phosphatases