Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis.
Twelve patients with different features of Turner syndrome, and with Xp and Yp rearrangements involving the pseudoautosomal region (PAR1) are described. In all patients, FISH analysis showed loss of one copy of the Short Stature Homeobox (SHOX)-containing gene. Ten patients had short stature and one disproportionate (mesomelic) normal stature, while the last one had normal stature. Skeletal abnormalities, including shortened ulna, were detected in nine subjects, and in six of them Madelung deformity was observed. These clinical data indicated a genotype phenotype correlation between haploinsufficiency of SHOX, and short stature and skeletal abnormalities.
Palka
G
G
Dipartimento di Scienze Biomediche, Università G D'Annunzio, Chieti, Italy. gdpalka@unich.it
Stuppia
L
L
Guanciali Franchi
P
P
Chiarelli
F
F
Fischetto
R
R
Borrelli
P
P
Giannotti
A
A
Fioretti
G
G
Rinaldi
M M
MM
Mingarelli
R
R
Rappold
G A
GA
Calabrese
G
G
D000293:Adolescent; D000328:Adult; D001827:Body Height / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D005260:Female; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D011859:Radiography; D000074122:Short Stature Homeobox Protein; D014424:Turner Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D014457:Ulna / Q000002:abnormalities / Q000000981:diagnostic imaging; D014960:X Chromosome; D014998:Y Chromosome
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein