L�ri-Weill syndrome associated with a pseudodicentric X;Y translocation chromosome and skewed X-inactivation: Implications for genetic counselling
✍ Scribed by Baralle, D. ;Willatt, L.R. ;Shears, D.J.
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 168 KB
- Volume
- 95
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
A female patient of normal intelligence with short stature and Madelung deformity is reported with Le ´ri-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.