Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2.
Saethre-Chotzen syndrome is a common autosomal dominant form of craniosynostosis, which results in the premature fusion of cranial sutures. Craniosynostosis is commonly associated with abnormalities of 7p; Vortkamp et al. (Nature 352, 539-540) demonstrated that the GLI3 gene in 7p13 was disrupted in, patients with Greig syndrome and, more recently, the linkage of genetic markers from 7p with the Saethre-Chotzen syndrome locus has been reported (2,3). Here we report the analysis by fluorescence in situ hybridization of four patients with Saethre-Chotzen syndrome associated with apparently balanced translocations involving band 7p21.2 and different reciprocal chromosomes. We show that in all four patients the breakpoints in 7p are situated within a 6 cM region flanked by the genetic markers D7S488 and D7S493. These results provide further evidence that the genetic locus for Saethre-Chotzen syndrome is located in distal 7p.
Rose
C S
CS
Unit of Molecular Genetics, Institute of Child Health, London, UK.
King
A A
AA
Summers
D
D
Palmer
R
R
Yang
S
S
Wilkie
A O
AO
Reardon
W
W
Malcolm
S
S
Winter
R M
RM
D000168:Acrocephalosyndactylia / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D013577:Syndrome; D014178:Translocation, Genetic
D005819:Genetic Markers