title: A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features.
abstract: BACKGROUND
  Microdeletions at 17q11.2 often encompass NF1 gene, is the cause for NF1 microdeletion syndrome. Microdeletion at 17q11.2 without the involvement of NF1 gene is rarely reported.
  
  
  METHODS
  Here we reported a patient carrying a novel de novo deletion at 17q11.2 adjacent to NF1 gene, who presented with developmental delay, short stature, postnatal microcephaly, underweight and dysmorphic features including flat facial profile, dolicocephaly, hypertelorism, short philtrum, flat nasal bridge and posteriorly rotated and low set ears. Chromosomal microarray analysis revealed a 1.69 Mb de novo deletion at 17q11.2 adjacent to NF1 gene, which involves 43 RefSeq genes. We compared this with four overlapping deletions at this interval.
  
  
  CONCLUSIONS
  A rare de novo microdeletion at 17q11.2 not involving NF1 gene is associated with developmental delay and dysmorphic features. Seven genes, TAOK1, PHF12, NUFIP2, SLC26A4, SEZ6, GIT1 and TRAF4 are possible candidates for the clinical features of our patient. The delineation of this rare deletion and description of associated clinical phenotypes will help to understand the genotype-phenotype correlation of genomic imbalances at this locus.
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No. 59, Xiangzhu Road, Nanning, China.
authors.forename: Bobo
authors.initials: B
authors.lastname: Xie
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No. 59, Xiangzhu Road, Nanning, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Fan
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No. 59, Xiangzhu Road, Nanning, China.
authors.forename: Yaqin
authors.initials: Y
authors.lastname: Lei
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No. 59, Xiangzhu Road, Nanning, China.
authors.forename: Rongyu
authors.initials: R
authors.lastname: Chen
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No. 59, Xiangzhu Road, Nanning, China.
authors.forename: Jin
authors.initials: J
authors.lastname: Wang
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No. 59, Xiangzhu Road, Nanning, China.
authors.forename: Chunyun
authors.initials: C
authors.lastname: Fu
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No. 59, Xiangzhu Road, Nanning, China.
authors.forename: Shang
authors.initials: S
authors.lastname: Yi
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No. 59, Xiangzhu Road, Nanning, China.
authors.forename: Jingsi
authors.initials: J
authors.lastname: Luo
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No. 59, Xiangzhu Road, Nanning, China.
authors.forename: Shujie
authors.initials: S
authors.lastname: Zhang
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No. 59, Xiangzhu Road, Nanning, China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Yang
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No. 59, Xiangzhu Road, Nanning, China.
authors.forename: Shaoke
authors.initials: S
authors.lastname: Chen
authors.affiliation: Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, No. 59, Xiangzhu Road, Nanning, China ; Department of Laboratory Medicine, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115 USA.
authors.forename: Yiping
authors.initials: Y
authors.lastname: Shen
keywords: 17q11.2; Chromosomal microarray; Developmental delay; Microcephaly; Microdeletion; SNP array; Short stature