Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location.
BACKGROUND
Turner syndrome is characterised by a 45,X karyotype and a variety of skeletal, lymphoedemic, and gonadal anomalies. Genes involved in the Turner phenotype are thought to be X/Y homologous with the X genes escaping X inactivation. Haploinsufficiency of the SHOX gene has been reported to cause the short stature seen in Turner syndrome patients. More recently, mutations of this gene have been shown to be associated with other skeletal abnormalities, suggesting that haploinsufficiency of SHOX causes all the Turner skeletal anomalies. No such gene has yet been identified for the lymphoedemic features.


METHODS
Fluorescence in situ hybridisation (FISH) analysis with PAC clones on nine patients with partially deleted X chromosomes was performed.


CONCLUSIONS
The Turner syndrome stigmata for each patient are described and correlation between the breakpoint and the phenotype discussed. A lymphoedema critical region in Xp11.4 is proposed and its gene content discussed with respect to that in the previously reported Yp11.2 lymphoedema critical region.
Boucher
C A
CA
Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK.
Sargent
C A
CA
Ogata
T
T
Affara
N A
NA
D019457:Chromosome Breakage / Q000235:genetics*; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D030561:Databases, Nucleic Acid; D004303:Dosage Compensation, Genetic; D004487:Edema / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D018895:Microsatellite Repeats / Q000235:genetics; D010641:Phenotype; D016324:Sequence Tagged Sites; D000074122:Short Stature Homeobox Protein; D014178:Translocation, Genetic / Q000235:genetics; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D014960:X Chromosome / Q000235:genetics*
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein