[Molecular cytogenetic detection of partial chromosome 13q trisomy and its relation with the clinical features of tortilcollis].
OBJECTIVE
To search for the possible relation between tortilcollis and partial chromosome 13q trisomy.


METHODS
Fluorescence in situ hybridization (FISH) technique combined with chromosome banding was performed to determine the karyotype of two patients with typical clinical features of partial 13q trisomy syndrome, then their manifestations were compared with those of the literatures published previously.


RESULTS
The two cases were partial trisomy of 13q14--> ter with a different second derivative chromosome, in spite of this difference, both of them had tortilcollis.


CONCLUSIONS
It is suggested that a potential site for tortilcollis may locate on the long arm of chromosome 13. With reference to a report previously published, the more precise candidate related region may be 13q32--> qter.
Du
Juan
J
Human Reproductive Engineering Laboratory, Xiangya School of Medicine, Central South University, Changsha, Hunan, 410078 PR China.
Tan
Yue-qiu
YQ
Li
Lu-yun
LY
Lu
Guang-xiu
GX
D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D003582:Cytogenetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D014103:Torticollis / Q000235:genetics*; D014314:Trisomy / Q000235:genetics*