Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.
We present two patients with the full Williams syndrome (WS) phenotype carrying a smaller deletion than typically observed. The deleted region spans from the elastin gene to marker D7S1870. This observation narrows the minimal region of deletion in WS and suggests that the syntaxin 1A and frizzled genes are not responsible for the major features of this developmental disorder and provides important insight into understanding the genotype-phenotype correlation in WS.
Botta
A
A
Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Italy.
Novelli
G
G
Mari
A
A
Novelli
A
A
Sabani
M
M
Korenberg
J
J
Osborne
L R
LR
Digilio
M C
MC
Giannotti
A
A
Dallapiccola
B
B
D000954:Antigens, Surface / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D051157:Frizzled Receptors; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D010641:Phenotype; D020161:Physical Chromosome Mapping; D011956:Receptors, Cell Surface / Q000235:genetics; D043562:Receptors, G-Protein-Coupled; D050827:Syntaxin 1; D018980:Williams Syndrome / Q000235:genetics* / Q000473:pathology
D000954:Antigens, Surface; C105574:FZD3 protein, human; D051157:Frizzled Receptors; D009419:Nerve Tissue Proteins; D011956:Receptors, Cell Surface; D043562:Receptors, G-Protein-Coupled; C494212:STX1A protein, human; D050827:Syntaxin 1