title: Léri-Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X-inactivation: implications for genetic counselling.
abstract: A female patient of normal intelligence with short stature and Madelung deformity is reported with Léri-Weill dyschondrosteosis and a de novo pseudodicentric X;Y translocation chromosome. The phenotype is consistent with the observed deletion of the SHOX gene by FISH and molecular studies. The Y chromosome breakpoint was in the short arm but proximal to SRY, consistent with her phenotypic sex. X-inactivation studies have shown a skewed pattern in favour of the dic (X;Y) chromosome. The ARSE gene was also deleted on the dic (X;Y) chromosome but chondrodysplasia punctata was not expressed, as CDP is recessive and ARSE escapes inactivation on the normal X chromosome. Breakpoint mapping assisted in karyotype/phenotype correlation and reproductive counselling. In particular, molecular analysis showed that the putative MRX 49 gene for mental retardation is unlikely to be deleted in this case.
authors.affiliation: Medical Genetics Department, Addenbrooke's Hospital, Cambridge, United Kingdom. dbaralle@hgmp.mrc.ac.uk
authors.forename: D
authors.initials: D
authors.lastname: Baralle
authors.forename: L R
authors.initials: LR
authors.lastname: Willatt
authors.forename: D J
authors.initials: DJ
authors.lastname: Shears
mesh_terms: D000293:Adolescent; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004303:Dosage Compensation, Genetic; D005260:Female; D005801:Genes, Homeobox / Q000235:genetics; D005817:Genetic Counseling; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D000074122:Short Stature Homeobox Protein; D013577:Syndrome; D014178:Translocation, Genetic; D014960:X Chromosome / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein