title: [Identification of the small supernumerary marker chromosomes in two patients with Turner syndrome].
abstract: OBJECTIVE
  To identify the small supernumerary marker chromosomes (sSMC) and guide the genetic counseling and medical treatment in two patients with Turner syndrome.
  
  
  METHODS
  High resolution GTG and C banding, SRY amplification by PCR and fluorescence in situ hybridization (FISH) on metaphase chromosomes were performed to the two patients.
  
  
  RESULTS
  The karyotypes of the two patients were 45, X [29]/46,X, +mar[31] and 45,X[71]/46,X, +mar[29] respectively. SRY test indicated SRY-positive for patient 1, whose sSMC was originated from chromosome Y. The karyotype was confirmed as 45,X[29]/46,X,idic(Y)(q10)[31]. ish idic(Y)(q10)(RP11-115H13x2) (SRY+) by FISH. While in patient 2, the sSMC was originated from chromosome X, whose karyotype was determined as 45, X[71]/46,X, r(X)(p11.23q21)[29]. ish r(X) (p11.23q21)(AL591394.11xAC092268.3).
  
  
  CONCLUSIONS
  Using cytogenetic and molecular cytogenetic analyses, we have identified the sSMCs in two patients with Turner syndrome, which was helpful to the clinical diagnosis and treatment.
authors: National Laboratory of Medical Genetics, Central South University, Changsha, Hunan, 410078 PR China. wulingqian@sklmg.edu.cn
authors: Juan
authors: J
authors: Wen
authors: Desheng
authors: D
authors: Liang
authors: Xi
authors: X
authors: Liao
authors: Jinjie
authors: J
authors: Xue
authors: Guizhi
authors: G
authors: Tang
authors: Yan
authors: Y
authors: Xia
authors: Zhigao
authors: Z
authors: Long
authors: Heping
authors: H
authors: Dai
authors: Lingqian
authors: L
authors: Wu
mesh_terms: D000293:Adolescent; D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D014424:Turner Syndrome / Q000235:genetics*
chemical_list: D005819:Genetic Markers