2003
DOI: 10.1590/s0004-27302003000600010
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Abstract: Clinical and Genetic Studies in Girls With Idiopathic Short Stature.Ten girls with idiopathic short stature (ISS) were clinically reviewed and cytogenetic analysis performed by GTG-banding. Two abnormal karyotypes were identified: mos 45,X/46,XX and mos 45,X/46,X, der(Xp)/46,X,r(X). In the latter, FISH analysis and microsatellite investigation, including intragenic SHOX CA repeat, confirmed the origin of the abnormal structural chromosomes and revealed haploinsufficiency for the SHOX gene. In the remaining 8 p… Show more

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Cited by 6 publications
(5 citation statements)
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“…Thus, a short stature in TS is due to the haploinsufficiency of the SHOX gene, which is located on the short arm of the X chromosome. 31 …”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Thus, a short stature in TS is due to the haploinsufficiency of the SHOX gene, which is located on the short arm of the X chromosome. 31 …”
Section: Discussionmentioning
confidence: 99%
“…Thus, a short stature in TS is due to the haploinsufficiency of the SHOX gene, which is located on the short arm of the X chromosome. 31 Post-pubertal patients with TS commonly present with hypergonadotropic hypogonadism due to ovarian dysgenesis that leads to premature ovarian failure. Therefore, most patients experience pubertal delay and primary amenorrhea.…”
Section: Discussionmentioning
confidence: 99%
“…The SHOX gene act during early embryonic development to control the formation of many body structures. Specifically, the SHOX gene is essential for the development of the skeleton and plays an important role in growth [68] and maturation of bones in the arms and legs.…”
Section: Discussionmentioning
confidence: 99%
“…A gravidade do defeito genético está associada a diferentes formas de displasia óssea. A haploinsuficiência é responsável por cerca de 56 a 100% dos casos de Discondrosteose de Léri-Weill e a deficiência completa do gene determina uma forma mais grave e rara de displasia óssea, conhecida como Síndrome de Langer [2,3].…”
Section: Introductionunclassified
“…Características presentes, porém menos frequentes, são encurtamento do quarto metacarpo e/ou metatarso, curvatura do rádio, da ulna e da tíbia, exostoses da tíbia e da fíbula proximal, tuberosidade do úmero anormal, colo do fêmur anormal/coxa valga, hipertrofia muscular e tendência para um índice de massa corporal (IMC) elevado. Radiologicamente essas pessoas apresentam encurvamento do rádio e deformidade de Madelung, que tipicamente se desenvolve na adolescência [1][2][3].…”
Section: Introductionunclassified