PMID- 10581353
OWN - NLM
STAT- MEDLINE
DCOM- 20000113
LR  - 20061115
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 16
IP  - 6
DP  - 1999 Dec
TI  - [An investigation of small marker chromosome in eight Turner syndrome patients by 
      fluorescence in situ hybridization and DNA analysis].
PG  - 392-4
AB  - OBJECTIVE: To direct genetic counseling and identify the origin of small marker 
      chromosome in patients with Turner syndrome stigmata. METHODS: The specific 
      primer on the sex determining region on Y (SRY) and biotin labeled X- and 
      Y-chromosome DNA probes were utilized in the analysis of sex chromosome-derived 
      markers. The PCR product from the amplification was detected on agarose gel, and 
      fluorescence in situ hybridization (FISH) was conducted to metaphase chromosome. 
      RESULTS: In 8 patients who had a small marker chromosome, five markers were 
      derived from the X chromosome and three from the Y chromosome. Two patients with 
      a Y-derived marker were determined by Y-chromosome probe as well as by SRY 
      sequences amplification. One patient with a Y-derived marker was only 
      demonstrated by FISH. CONCLUSION: The findings of this study demonstrate 
      successfully the value and necessity of FISH utilizing DNA probes combined with 
      specific amplification on SRY gene in the identification of sex chromosome 
      marker. Such identification is important not only for clinical care, but also for 
      understanding phenotype-karyotype correlations.
FAU - Hu, X
AU  - Hu X
AD  - Department of Pediatrics, Tongji Hospital, Tongji Medical University, Wuhan 
      430030 P.R.China. xiaofenghu@hotmail.com
FAU - Zhu, B
AU  - Zhu B
FAU - Hu, B
AU  - Hu B
FAU - Lin, H
AU  - Lin H
FAU - Shu, D
AU  - Shu D
FAU - Li, C
AU  - Li C
FAU - Liu, X
AU  - Liu X
LA  - chi
PT  - English Abstract
PT  - Journal Article
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
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Genetic Markers)
RN  - 0 (Nuclear Proteins)
RN  - 0 (SRY protein, human)
RN  - 0 (Sex-Determining Region Y Protein)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - DNA-Binding Proteins/genetics
MH  - Female
MH  - *Genetic Markers
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Male
MH  - *Nuclear Proteins
MH  - *Polymerase Chain Reaction
MH  - Sex-Determining Region Y Protein
MH  - *Transcription Factors
MH  - Turner Syndrome/*genetics
EDAT- 1999/12/03 00:00
MHDA- 1999/12/03 00:01
CRDT- 1999/12/03 00:00
PHST- 1999/12/03 00:00 [pubmed]
PHST- 1999/12/03 00:01 [medline]
PHST- 1999/12/03 00:00 [entrez]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Dec;16(6):392-4.