title: Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities.
abstract: BACKGROUND
  Central nervous system features have been rarely described to be associated with the small deletion or duplication of chromosome 22q11.21.
  
  
  METHODS
  We report two patients with chromosome 22q11.21 alterations and central nervous system abnormalities. Features described include semilobar holoprosencephaly in the patient with the small deletion and Chiari I malformation in the patient with the small duplication.
  
  
  CONCLUSIONS
  This report will aid in the characterization of the clinical significance of interstitial duplications and deletions on the long-arm of chromosome 22. Areas of future research would benefit from additional analysis of the described regions with inclusion of the phenotypic findings described in this case report to provide additional insight into the pathogenicity of the described alterations.
authors.affiliation: University of Oklahoma Health Sciences Center, 1122 NE 13 Street, Ste 1400, Oklahoma City, OK 73104 USA.
authors.forename: Carrie
authors.initials: C
authors.lastname: Guy
authors.affiliation: University of Oklahoma Health Sciences Center, 1122 NE 13 Street, Ste 1400, Oklahoma City, OK 73104 USA.
authors.forename: Xianfu
authors.initials: X
authors.lastname: Wang
authors.affiliation: University of Oklahoma Health Sciences Center, 1122 NE 13 Street, Ste 1400, Oklahoma City, OK 73104 USA.
authors.forename: Xianglan
authors.initials: X
authors.lastname: Lu
authors.affiliation: University of Oklahoma Health Sciences Center, 1122 NE 13 Street, Ste 1400, Oklahoma City, OK 73104 USA.
authors.forename: Jin
authors.initials: J
authors.lastname: Lu
authors.affiliation: University of Oklahoma Health Sciences Center, 1122 NE 13 Street, Ste 1400, Oklahoma City, OK 73104 USA.
authors.forename: Shibo
authors.initials: S
authors.lastname: Li
keywords: Array CGH; Central nervous system abnormalities; Chiari I malformation; Chromosome 22q11; Deletion; Duplication; Microarray; Semilobar holoprosencephaly