[Identification of the small supernumerary marker chromosomes in two patients with Turner syndrome].
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.
Wen
Juan
J
National Laboratory of Medical Genetics, Central South University, Changsha, Hunan, 410078 PR China. wulingqian@sklmg.edu.cn
Liang
Desheng
D
Liao
Xi
X
Xue
Jinjie
J
Tang
Guizhi
G
Xia
Yan
Y
Long
Zhigao
Z
Dai
Heping
H
Wu
Lingqian
L
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*
D005819:Genetic Markers