PMID- 21462139
OWN - NLM
STAT- MEDLINE
DCOM- 20110531
LR  - 20110404
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 28
IP  - 2
DP  - 2011 Apr
TI  - [Conventional and molecular cytogenetic analyses of a derivative X chromosome in 
      amniocentesis].
PG  - 217-9
LID - 10.3760/cma.j.issn.1003-9406.2011.02.021 [doi]
AB  - OBJECTIVE: To analyze the aberrant der(X) chromosome using conventional and 
      molecular cytogenetic approaches in a fetus of second trimester and to discuss 
      its clinical effect. METHODS: Conventional 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. RESULTS: Der(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. CONCLUSION: The 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.
FAU - LUO, Yu-qin
AU  - LUO YQ
AD  - Department of Clinical Laboratory, Women's Hospital, Zhejiang University School 
      of Medicine, Hangzhou, Zhejiang, 310006 P.R. China.
FAU - QIAN, Yu-li
AU  - QIAN YL
FAU - ZHANG, Yan
AU  - ZHANG Y
FAU - ZHU, Yu-ning
AU  - ZHU YN
FAU - XU, Chen-ming
AU  - XU CM
FAU - LV, Shi-ming
AU  - LV SM
LA  - chi
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
SB  - IM
MH  - Adult
MH  - Amniocentesis/*methods
MH  - Amniotic Fluid/cytology
MH  - *Chromosome Aberrations
MH  - Chromosome Banding/methods
MH  - *Chromosomes, Human, X
MH  - Cytogenetic Analysis/*methods
MH  - Female
MH  - Fetus/abnormalities
MH  - Genetic Counseling/methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Pregnancy
MH  - Pregnancy Trimester, Second
EDAT- 2011/04/05 06:00
MHDA- 2011/06/01 06:00
CRDT- 2011/04/05 06:00
PHST- 2011/04/05 06:00 [entrez]
PHST- 2011/04/05 06:00 [pubmed]
PHST- 2011/06/01 06:00 [medline]
AID - 940628044 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2011.02.021 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Apr;28(2):217-9. doi: 
      10.3760/cma.j.issn.1003-9406.2011.02.021.