[Confirmation of the extra small chromosome in abnormality karyotype by PCR and FISH].
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.


CONCLUSIONS
The extra small chromosome is part of the chromosome Y.
Xue
Zhi-gang
ZG
National Key Laboratory of Medical Genetics, Central South University, Changsha 410078, China.
Li
Yu-mei
YM
Yao
Zhong-yuan
ZY
Long
Zhi-gao
ZG
Dai
He-ping
HP
Wu
Ling-qian
LQ
Xia
Kun
K
Xia
Jia-hui
JH
D000293:Adolescent; D002869:Chromosome Aberrations; D005260:Female; D024282:Genes, sry / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D016133:Polymerase Chain Reaction; D012730:Sex Chromosomes; D012733:Sex Differentiation / Q000235:genetics; D014424:Turner Syndrome / Q000235:genetics*