title: Clinical features of girls with short stature among inv (9), Turner (45, X) and control individuals.
abstract: BACKGROUND
  The clinical significance of pericentric inversion of chromosome 9 [inv (9)] remains unclear.
  
  
  METHODS
  This case control study assessed girls with short stature. According to karyotypes, the subjects were divided into inv (9) [46,XX,inv (9)(p12q13) and 46,XX,inv (9)(p11q13)], Turner syndrome (45, X) and control (normal 46, XX) groups, respectively. Detailed clinical features were compared.
  
  
  RESULTS
  Height standard deviation score (SDS) values at diagnosis were -2.51±0.58, -3.71±2.12 and -2.5±1.24 for inv (9), (45, X) and control groups, respectively (p=0.022). The inv (9) group showed lower body mass index (BMI) values compared with the (45, X) and control groups (F=5.097, p=0.008). Similar growth hormone deficiency (GHD) incidences were found in all groups. Interestingly, height SDS was positively correlated with mother height and patient BMI SDS (r=0.51, p=0.036; r=0.576, p=0.023, respectively) in the inv (9) group. In the (45, X) group, height SDS was positively correlated with birth weight (r=0.392, p=0.039).
  
  
  CONCLUSIONS
  Short stature in inv (9) girls was correlated with low birth weight (LBW) and mother height.
authors.affiliation: Department of Endocrinology, The Children's Hospital of Zhejiang University School of Medicine, Hangzhou, P.R.
authors.forename: Xuefeng
authors.initials: X
authors.lastname: Chen
authors.affiliation: Department of Endocrinology, The Children's Hospital of Zhejiang University School of Medicine, 3333 binsheng road, Hangzhou 310051, P.R.
authors.forename: Xiumin
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Endocrinology, The Children's Hospital of Zhejiang University School of Medicine, Hangzhou, P.R.
authors.forename: Guanping
authors.initials: G
authors.lastname: Dong
authors.affiliation: Department of Endocrinology, The Children's Hospital of Zhejiang University School of Medicine, Hangzhou, P.R.
authors.forename: Junfen
authors.initials: J
authors.lastname: Fu
authors.affiliation: Department of Endocrinology, The Children's Hospital of Zhejiang University School of Medicine, Hangzhou, P.R.
authors.forename: Wei
authors.initials: W
authors.lastname: Wu
authors.affiliation: Department of Endocrinology, The Children's Hospital of Zhejiang University School of Medicine, Hangzhou, P.R.
authors.forename: Youjun
authors.initials: Y
authors.lastname: Jiang
mesh_terms: D001827:Body Height / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D007446:Chromosome Inversion / Q000235:genetics*; D020732:Cytogenetic Analysis; D004393:Dwarfism, Pituitary / Q000235:genetics / Q000473:pathology*; D005260:Female; D005500:Follow-Up Studies; D006130:Growth Disorders / Q000235:genetics / Q000473:pathology*; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D014424:Turner Syndrome / Q000235:genetics / Q000473:pathology*
chemical_list: D019382:Human Growth Hormone
keywords: body mass index (BMI); growth hormone deficiency (GHD); pericentric inversion of chromosome 9 (inv 9); short stature; standard deviation score (SDS)