Y-linked familial short stature is a pseudo-autosomal dominant disorder caused by haploinsufficiency of a mutation in the pseudo-autosomal region of the x chromosome. Penetrance is variable even in the same family, so in the worst scenario affected member may develop Leri-Weill dyschondrosteosis.
Growth retardation | |
Short stature is disproportionate with signs of mesomelia. |
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Dysmorphism | |
Skeletal deformities include mesomelic deformities, Madlung deformity of the wrist in particular. |
Short stature, SHOX-linked | ||||
Langer mesomelic dysplasia | ||||
Leri-Weill dyschondrosteosis | ||||
X-linked familial short stature | ||||
Y-linked familial short stature | ||||
SHOX | ||||
1. |
Chen J et al. (2009) Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain. |
2. |
Benito-Sanz S et al. (2012) Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. |
3. |
Shanske A et al. (1999) Deletion of the pseudoautosomal region in a male with a unique Y;13 translocation and short stature. |
5. |
Deng HW et al. (2002) A whole-genome linkage scan suggests several genomic regions potentially containing QTLs underlying the variation of stature. |
6. |
Binder G et al. (2003) Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature. |
7. |
Ellison JW et al. (1997) PHOG, a candidate gene for involvement in the short stature of Turner syndrome. |
8. |
Rao E et al. (1997) FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes. |
9. |
Rao E et al. (1997) Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. |
11. |
Zuffardi O et al. (1982) The role of Yp in sex determination: new evidence from X/Y translocations. |
12. |
Ballabio A et al. (1989) Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. |
13. |
Henke A et al. (1991) Deletions within the pseudoautosomal region help map three new markers and indicate a possible role of this region in linear growth. |
14. |
Ogata T et al. (1992) Short stature in a girl with a terminal Xp deletion distal to DXYS15: localisation of a growth gene(s) in the pseudoautosomal region. |
15. |
Ogata T et al. (1992) Chromosomal localisation of a pseudoautosomal growth gene(s). |
16. |
Morizio E et al. (2003) Deletion of the SHOX gene in patients with short stature of unknown cause. |
17. |
Rappold GA et al. (2002) Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. |
18. |
Sabherwal N et al. (2007) Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients. |
19. |
OMIM.ORG article Omim 400020 |