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Trisomy of the Short Stature Homeobox-containing Gene (SHOX) Due to Duplication/deletion of the X Chomosome: Clinical Implications on the Stature

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Publisher Karger
Date 2010 Aug 7
PMID 20689243
Citations 5
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Abstract

Background: The karyotypes of 2 patients with abnormal stature and different phenotypes revealed one similar structural abnormality in the X chromosome by conventional cytogenetic studies and fluorescence in situ hybridization analysis (FISH). FISH strongly suggested the presence of two copies of the SHOX gene in the der(X) chromosome.

Patients And Results: Patient 1 is a teenager girl with tall stature, behavioral disturbances and normal pubertal development. The abnormal X chromosome was present in all cells studied. Parent's karyotypes were normal. Patient 2 is a girl with gonadal dysgenesis, mild Turner syndrome phenotype and short stature. The karyotype was a mosaic 45,X/46,X,r(X) and der(X) chromosome presented in most metaphases of the cell lines. Parent's karyotypes were normal. Nearly all duplication of Xp and partial deletion of the long arm (Xq) from Xq27 or Xq21 to Xqter, in cases 1 and 2, respectively, were observed. In both patients, duplication of Xp translocated to deleted Xq occurred leading to a triplication of the pseudoautosomal region 1 (PAR1) where the SHOX gene is located (Xp22.3).

Conclusions: We propose that in some cases of trisomy for the SHOX gene, the effect of overdosage per se may affect the stature, even in patients with preserved ovarian function (case 1), and that estrogen deprivation may not always be a contributor for tall stature (case 2).

Citing Articles

SHOX Duplication and Tall Stature in a Patient with Xq Deletion and Vascular Disease.

Ramirez J, Rodriguez F, Echeverria M, Vargas A, Calderon A, Miatello R Case Rep Genet. 2019; 2019:2691820.

PMID: 31093387 PMC: 6476016. DOI: 10.1155/2019/2691820.


A 105 kb interstitial insertion in the Xq27.1 palindrome from pseudoautosomal region PAR1 causes a novel X-linked recessive compound phenotype.

Si N, Meng X, Zhao Z, Xia W, Zhang X J Transl Med. 2019; 17(1):138.

PMID: 31036090 PMC: 6489244. DOI: 10.1186/s12967-019-1887-2.


Turner syndrome caused by rare complex structural abnormalities involving chromosome X.

Li N, Zhao L, Li J, Ding Y, Shen Y, Huang X Exp Ther Med. 2017; 14(3):2265-2270.

PMID: 28962153 PMC: 5609171. DOI: 10.3892/etm.2017.4756.


Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.

Fukami M, Naiki Y, Muroya K, Hamajima T, Soneda S, Horikawa R J Hum Genet. 2015; 60(9):553-6.

PMID: 26040210 DOI: 10.1038/jhg.2015.53.


A case of premature ovarian failure in a 33-year-old woman.

Colao E, Granata T, Vismara M, Bombardiere F, Nocera D, Luciano E Case Rep Genet. 2013; 2013:573841.

PMID: 23509644 PMC: 3569886. DOI: 10.1155/2013/573841.