title: [Phenotypic and genetic analysis of a girl with multiple congenital deformities due to 2p15-p16.1 microdeletion syndrome].
abstract: OBJECTIVE
  To determine the origin of chromosomal aberration for a girl with mental retardation and multiple congenital deformities.
  
  
  METHODS
  The karotypes of the girl and her parents were analyzed with routine G-banding .Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH). Short tandem repeats (STR) were used to confirm the results of aCGH.
  
  
  RESULTS
  There were no karyotypic abnormality detected at cytogenetic level. aCGH identified a de novo 1.28 Mb deletion at 2p15-p16.1 in the girl. The results of the STR confirmed the deletion affected the maternal chromosome.
  
  
  CONCLUSIONS
  The de novo interstitial 2p15-p16.1 deletion may cause the mental retardation and multiple congenital deformities. chr2:60.5-61.5 Mb may be the minimal common region of 2p15-p16.1 microdeletion syndrome.
authors.affiliation: Medical Genetic Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, P.R. China. ychslshx@126.com.
authors.forename: Dong
authors.initials: D
authors.lastname: Wu
authors.forename: Hongdan
authors.initials: H
authors.lastname: Wang
authors.forename: Hui
authors.initials: H
authors.lastname: Zhang
authors.forename: Qiaofang
authors.initials: Q
authors.lastname: Hou
authors.forename: Litao
authors.initials: L
authors.lastname: Qin
authors.forename: Tao
authors.initials: T
authors.lastname: Wang
authors.forename: Hai
authors.initials: H
authors.lastname: Xiao
authors.forename: Shixiu
authors.initials: S
authors.lastname: Liao
authors.forename: Yingtai
authors.initials: Y
authors.lastname: Wang
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D055028:Comparative Genomic Hybridization / Q000379:methods; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D018895:Microsatellite Repeats / Q000235:genetics; D010641:Phenotype; D013577:Syndrome