Confirmation of the extra small chromosome in abnormality karyotype by PCR and FISH.
- Author:
Zhi-gang XUE
1
;
Yu-mei LI
;
Zhong-yuan YAO
;
Zhi-gao LONG
;
He-ping DAI
;
Ling-qian WU
;
Kun XIA
;
Jia-hui XIA
Author Information
1. National Key Laboratory of Medical Genetics, Central South University, Changsha 410078, China.
- Publication Type:Journal Article
- MeSH:
Adolescent;
Chromosome Aberrations;
Female;
Genes, sry;
genetics;
Humans;
In Situ Hybridization, Fluorescence;
Karyotyping;
Polymerase Chain Reaction;
Sex Chromosomes;
Sex Differentiation;
genetics;
Turner Syndrome;
genetics
- From:
Journal of Central South University(Medical Sciences)
2005;30(6):657-659
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate the source of the extra small chromosome in a patient with karyotype 45,X[115]/46,X + mar[45]/46,XY[29].
METHODS:The SRYgene was detected by PCR, and the chromosome Y probe that labeled with biotin was detected by fluorescence in situ hybridization.
RESULTS:SRY gene is detected positive and the mar chromosome showed positive signal with FISH in human chromosome Y probe pool.
CONCLUSION:The extra small chromosome is part of the chromosome Y.
