Conventional and molecular cytogenetic analyses of a derivative X chromosome in amniocentesis.
- Author:
Yu-qin LUO
1
;
Yu-li QIAN
;
Yan ZHANG
;
Yu-ning ZHU
;
Chen-ming XU
;
Shi-ming LV
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Amniocentesis; methods; Amniotic Fluid; cytology; Chromosome Aberrations; Chromosome Banding; methods; Chromosomes, Human, X; Cytogenetic Analysis; methods; Female; Fetus; abnormalities; Genetic Counseling; methods; Humans; In Situ Hybridization, Fluorescence; methods; Pregnancy; Pregnancy Trimester, Second
- From: Chinese Journal of Medical Genetics 2011;28(2):217-219
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the aberrant der(X) chromosome using conventional and molecular cytogenetic approaches in a fetus of second trimester and to discuss its clinical effect.
METHODSConventional cytogenetic procedures (GTG and CBG banding) were performed on cultured amniotic fluid cells. Three-color fluorescence in situ hybridization (FISH) consisting of X chromosome enumeration probes(CEPX), CEPY and Tel Xp/Yp was further performed to study the aberrant der(X) chromosome.
RESULTSDer(X) was a rare X/Y translocation. The final karyotypes of the fetus was designated as: 46,X,der(X)t(X;Y)(p22.3;q11.2). ish der(X)t(X;Y)(p22.3;q11.2)(X/Ypter-, DXZ1+, DYZ1+)mat.
CONCLUSIONThe combination of FISH and conventional cytogenetic techniques is a powerful tool to determine derivative chromosome and to offer an accurate genetic counseling. Identification of Xp; Yq rearrangement can help estimate the risk of fetus abnormalities and give a more precise prognosis.
