Molecular cytogenetic detection of partial chromosome 13q trisomy and its relation with the clinical features of tortilcollis.
- Author:
Juan DU
1
;
Yue-qiu TAN
;
Lu-yun LI
;
Guang-xiu LU
Author Information
- Publication Type:Case Reports
- MeSH: Child; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 13; genetics; Cytogenetics; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Male; Torticollis; genetics; Trisomy; genetics
- From: Chinese Journal of Medical Genetics 2003;20(3):189-192
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo search for the possible relation between tortilcollis and partial chromosome 13q trisomy.
METHODSFluorescence 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.
RESULTSThe two cases were partial trisomy of 13q14--> ter with a different second derivative chromosome, in spite of this difference, both of them had tortilcollis.
CONCLUSIONIt 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.
