in 1997 , the short stature homeobox containing gene ( shox ) was cloned from the 
 pseudoautosomal region of the short arm of the x and the y chromosome ( par1 ) ( 1 ) . subsequent studies have shown that shox 
 haploinsufficiency leads to short stature , turner skeletal features , and leri - weill 
 dyschondrosteosis ( lwd ) characterized by mesomelic limb shortening and madelung deformity 
 ( 2,3,4 ) . here , we report a boy with short stature , turner 
 skeletal feature , and a ring y chromosome missing shox . the boy was the first child born to non - consanguineous parents after an uncomplicated term 
 pregnancy . his birth length was 46.3 cm ( 1.7 sd ) , and birth weight 2.9 kg ( 0.6 sd ) . subsequently , his clinical course was uneventful , although his height remained just below 
 2.0 sd . the paternal height was 169.4 cm , and the maternal height 161.0 cm . at age 11 physical examination showed a 
 prepubertal boy ( testis size , 2 ml ; pubic hair , tanner stage 1 ) with proportionate short 
 stature ( 127.3 cm , 2.3 sd ) and mild cubitus valgus ( fig . b , radiological findings 
 indicating bowing of the radius and dorsal dislocation of the distal ulna . ) . bone age was 10 yr . endocrine studies for short stature were normal , as were cerebral mri 
 scans . chromosomal analysis showed a 46,x , r(y)(p11.3q11.2 ) karyotype in all the 20 
 lymphocytes examined ( fig . 2 g - banding karyotype showing the ring y - chromosome ( box ) . ) , and fluorescence in situ hybridization ( fish ) analysis with a shox probe ( yp11.3 ) 
 ( mbc , tokyo , japan ) and an xq / yq telomere probe demonstrated loss of shox from the ring y 
 chromosome ( fig . 3fig . 3 fish analysis of this patient showing the presence of a single copy of the shox gene 
 ( green signal ) on the x chromosome . ) . fish was also performed with an sry probe , confirming the presence of sry .   a , photographic appearance showing cubitus valgus . b , radiological findings 
 indicating bowing of the radius and dorsal dislocation of the distal ulna . fish analysis of this patient showing the presence of a single copy of the shox gene 
 ( green signal ) on the x chromosome . shox haploinsufficiency resulting from a ring y chromosome was identified in a boy with 
 short stature , cubitus valgus , and mild turner skeletal features ( 2,3,4 ) . the results are consistent with the association of shox haploinsufficiency 
 with short stature and turner skeletal features . in addition , the mild skeletal 
 manifestation in this prepubertal boy is compatible with the previous notion that skeletal 
 maturing effects of gonadal estrogens induce the growth failure and skeletal anomalies in 
 patients with shox haploinsufficiency ( 4 ) . indeed , 
 severe phenotype in shox haploinsufficiency has usually been observed in pubertal to adult 
 females with normal ovarian function ( 4 , 5 ) . in this study , it is notable that shox haploinsufficiency was found in a prepubertal boy . chromosome analysis is usually performed on girls with short stature because of the 
 possibility of turner syndrome , and shox analysis is frequently carried out on pubertal to 
 adult females because of obvious skeletal manifestations . by contrast , such analyses remain 
 rare for prepubertal boys primarily due to male sex development and mild skeletal phenotype . we recommend such analyses for boys with short stature and turner - like skeletal features . identification of shox haploinsufficiency will permit application of gnrh analog ( 6 ) therapy and appropriate genetic counseling .
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 .