Comparison of female and male interstitial deletions in the distal Xq
- La Trobe Univ., Melbourne (Australia)
We reviewed female interstitial deletions in the distal Xq and compared them to those reported in males. Most of the deletions were common to females and males, and they were scattered within Xq27 and proximal Xq. Six females had large deletions of 1-10 Mb which formed a contig covering {approximately}13 Mb within Xq27.1{r_arrow}proximal Xq28. In 3 of these patients the deleted X chromosome was preferentially active, and the phenotype was abnormal (mental retardation in the patient of Schmidt et al.; mental retardation and Hunter syndrome in the patient of Clarke et al.; and mental retardation and myotubular myopathy in the patient of Dahl et al.) All three deletions occurred de novo. Our previous analysis of these deletions showed no abnormalities in the methylation and replication patterns of the region distal to the deletion, and in the corresponding area on the normal X chromosome. Thus, there is no evidence that the skewed inactivation pattern in these cases resulted from the cell selection driven by anomalies of X inactivation. 33 refs., 1 fig.
- OSTI ID:
- 476928
- Journal Information:
- American Journal of Medical Genetics, Vol. 64, Issue 1; Other Information: PBD: 12 Jul 1996
- Country of Publication:
- United States
- Language:
- English
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