Short stature and turner skeletal features in an 11-year-old boy with a ring y chromosome missing the short stature homeobox containing gene.
We report on an 11-yr-old boy with short stature and Turner skeletal features. Chromosome analysis revealed a 46,X,r(Y)(p11.3q11.2) karyotype, and FISH analysis showed loss of the Short stature homeobox containing gene (SHOX) from the ring Y chromosome. The results are consistent with the association of SHOX haploinsufficiency with short stature and Turner skeletal features, and suggest the importance of SHOX analysis in boys with Turner-like skeletal phenotype.
Department of Pediatrics, Shiga National Hospital, Shiga, Japan.
Masayuki
M
Tanaka
Department of Pediatrics, Shiga National Hospital, Shiga, Japan.
Yoshikazu
Y
Ohmizono
Madelung deformity; SHOX; Turner skeletal features; ring Y; short stature