Gene for Simpson‐Golabi‐Behmel syndrome is linked to HPRT in Xq26 in two European families
- 1 May 1994
- journal article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 50 (4), 388-390
- https://doi.org/10.1002/ajmg.1320500423
Abstract
Linkage, analysis was performed in 2 previously described European families segregating for the Simpson‐Golabi‐Behmel (SGB) syndrome. In both kindreds close linkage without recombination (zmax=4.45 at theta= 0.00) was observed between the disease locus and the HPRT locus mapped in Xq26. These data are very similar to those (zmax=7.5 at the‐ta=0.00) reported recently by others after studying a large Dutch‐Canadian kindred with SGB syndrome. Compiled lod scores from the 3 families reach their maximum of 11.95 at recombination fraction of 0.00 with one lod unit support interval of 0.00–0.04.Keywords
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