Growth disorders due to rearrangement of SHOX gene locus

Abstract

SHOX gene is localized in pseudoautosomal region (PAR) of X and Y chomosomes, it is a homeobox gene and plays a key role in bone development. Genes in PAR are not imprinted and diseases caused by mutations in these genes manifest like autosomal disorders with incomplete penetrance.

Recombinations are very frequent in this region.

Keywords

• SHOX
• bone growth
• Léri-Weill
• Turner syndrome
• FISH
• MLPA
• molecular genetics