| Literature DB >> 7909651 |
K Tsuji1, K Narahara, K Kikkawa, M Murakami, Y Yokoyama, S Ninomiya, Y Seino.
Abstract
Craniosynostosis (CRS) is frequently seen in the del(7p) syndrome, and the gene for this cranial anomaly (CRS1) has been assigned to 7p21. We present a 3-year-old boy with CRS involving the sagittal and coronal sutures, who had a de novo and apparently balanced translocation, t(6;7)(q16.2;p15.3). Southern blot analysis of several loci on 7p14-->pter showed that the patient was heterozygous for HOX1I and IL6, possibly homozygous for D7S149, but hemizygous for D7S135 with a loss of the paternal allele. These findings suggest the localization of a candidate gene for CRS1 to be on 7p15.3 in the close proximity to the D7S135 locus.Entities:
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Year: 1994 PMID： 7909651 DOI： 10.1002/ajmg.1320490119
Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299