Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6;7) translocation.
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.
Tsuji
K
K
Department of Pediatrics, Okayama University Medical School, Japan.
Narahara
K
K
Kikkawa
K
K
Murakami
M
M
Yokoyama
Y
Y
Ninomiya
S
S
Seino
Y
Y
D015139:Blotting, Southern; D002675:Child, Preschool; D002896:Chromosomes, Human, Pair 6 / Q000648:ultrastructure*; D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure*; D003398:Craniosynostoses / Q000235:genetics*; D015342:DNA Probes; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D014178:Translocation, Genetic
D015342:DNA Probes; D005819:Genetic Markers