Identification of the small supernumerary marker chromosomes in two patients with Turner syndrome.
- Author:
Juan WEN
1
;
Desheng LIANG
;
Xi LIAO
;
Jinjie XUE
;
Guizhi TANG
;
Yan XIA
;
Zhigao LONG
;
Heping DAI
;
Lingqian WU
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Child; Chromosomes, Human, X; genetics; Chromosomes, Human, Y; genetics; Female; Genetic Markers; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Turner Syndrome; genetics
- From: Chinese Journal of Medical Genetics 2009;26(6):659-663
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the small supernumerary marker chromosomes (sSMC) and guide the genetic counseling and medical treatment in two patients with Turner syndrome.
METHODSHigh resolution GTG and C banding, SRY amplification by PCR and fluorescence in situ hybridization (FISH) on metaphase chromosomes were performed to the two patients.
RESULTSThe 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).
CONCLUSIONUsing 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.
