Aarskog-Scott syndrome: Confirmation of linkage to the pericentromeric region of the X chromosome

✍ Scribed by Stevenson, Roger E. ;May, Melanie ;Arena, J. Fernando ;Millar, Edward A. ;Scott, Charles I. ;Schroer, Richard J. ;Simensen, Richard J. ;Lubs, Herbert A. ;Schwartz, Charles E.

• Publisher: John Wiley and Sons
• Year: 1994
• Tongue: English
• Weight: 876 KB
• Volume: 52
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320520317

✦ Synopsis

Aarskog-Scott syndrome was tentatively mapped to Xq13 on the basis of an X 8 translocation by Bawle et al. [Am J Med Genet 17:595-602,19841. A review of the cytogenetics and the use of molecular markers in that family have resulted in revision of the breakpoints of the translocation to Xp 11.2 and 8q11.21 [Glover et al., Hum Mol Genet 2:1717-1718, 19931. Two families, including one of the two initial families with Aarskog-Scott syndrome [Scott, BD:OAS VII (6): 24&246, 19711, have participated in our study to evaluate the localization of the gene for Aarskog-Scott syndrome to the pericentromeric region of the X chromosome. Using a series of DNA probes, we have been able to confirm linkage to the X chromosome, with multipoint analysis indicating the most likely localization of the gene to be on the proximal short arm.