LymphedemaV1, Main, Exploration, bibRecord, 001658

Turner syndrome presented with tall stature due to overdosage of the SHOX gene

Identifieur interne : 001658 ( Main/Exploration ); précédent : 001657; suivant : 001659

Turner syndrome presented with tall stature due to overdosage of the SHOX gene

Auteurs : Go Hun Seo [Corée du Sud] ; Eungu Kang [Corée du Sud] ; Ja Hyang Cho [Corée du Sud] ; Beom Hee Lee [Corée du Sud] ; Jin-Ho Choi [Corée du Sud] ; Gu-Hwan Kim [Corée du Sud] ; Eul-Ju Seo [Corée du Sud] ; Han-Wook Yoo [Corée du Sud]

Source :

Annals of Pediatric Endocrinology & Metabolism [ 2287-1012 ] ; 2015.

RBID : PMC:4504991

Abstract

Turner syndrome is one of the most common chromosomal disorders. It is caused by numerical or structural abnormalities of the X chromosome and results in short stature and gonadal dysgenesis. The short stature arises from haploinsufficiency of the SHOX gene, whereas overdosage contributes to tall stature. This report describes the first Korean case of Turner syndrome with tall stature caused by SHOX overdosage. The patient presented with primary amenorrhea and hypergonadotropic hypogonadism at the age of 17 years. Estrogen replacement therapy was initiated at that time. She displayed tall stature from childhood, with normal growth velocity, and reached a final height of 190 cm (standard deviation score, 4.3) at the age of 30 years. Her karyotype was 46,X, psu idic(X)(q21.2), representing partial monosomy of Xq and partial trisomy of Xp. Analysis by multiplex ligation-dependent probe amplification detected a duplication at Xp22.3-Xp22.2, encompassing the PPP2R3 gene near the 5'-end of the SHOX gene through the FANCD gene at Xp22.2.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504991

DOI: 10.6065/apem.2015.20.2.110
PubMed: 26191517
PubMed Central: 4504991

Affiliations:

Le document en format XML

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<front><div type="abstract" xml:lang="en"><p>Turner syndrome is one of the most common chromosomal disorders. It is caused by numerical or structural abnormalities of the X chromosome and results in short stature and gonadal dysgenesis. The short stature arises from haploinsufficiency of the <italic>SHOX</italic>
 gene, whereas overdosage contributes to tall stature. This report describes the first Korean case of Turner syndrome with tall stature caused by <italic>SHOX</italic>
 overdosage. The patient presented with primary amenorrhea and hypergonadotropic hypogonadism at the age of 17 years. Estrogen replacement therapy was initiated at that time. She displayed tall stature from childhood, with normal growth velocity, and reached a final height of 190 cm (standard deviation score, 4.3) at the age of 30 years. Her karyotype was 46,X, psu idic(X)(q21.2), representing partial monosomy of Xq and partial trisomy of Xp. Analysis by multiplex ligation-dependent probe amplification detected a duplication at Xp22.3-Xp22.2, encompassing the <italic>PPP2R3</italic>
 gene near the 5'-end of the <italic>SHOX</italic>
 gene through the <italic>FANCD</italic>
 gene at Xp22.2.</p>
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<name sortKey="Choi, Jin Ho" sort="Choi, Jin Ho" uniqKey="Choi J" first="Jin-Ho" last="Choi">Jin-Ho Choi</name>
<name sortKey="Kang, Eungu" sort="Kang, Eungu" uniqKey="Kang E" first="Eungu" last="Kang">Eungu Kang</name>
<name sortKey="Kim, Gu Hwan" sort="Kim, Gu Hwan" uniqKey="Kim G" first="Gu-Hwan" last="Kim">Gu-Hwan Kim</name>
<name sortKey="Lee, Beom Hee" sort="Lee, Beom Hee" uniqKey="Lee B" first="Beom Hee" last="Lee">Beom Hee Lee</name>
<name sortKey="Seo, Eul Ju" sort="Seo, Eul Ju" uniqKey="Seo E" first="Eul-Ju" last="Seo">Eul-Ju Seo</name>
<name sortKey="Yoo, Han Wook" sort="Yoo, Han Wook" uniqKey="Yoo H" first="Han-Wook" last="Yoo">Han-Wook Yoo</name>
<name sortKey="Yoo, Han Wook" sort="Yoo, Han Wook" uniqKey="Yoo H" first="Han-Wook" last="Yoo">Han-Wook Yoo</name>
</country>
</tree>
</affiliations>
</record>

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   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     PMC:4504991
   |texte=   Turner syndrome presented with tall stature due to overdosage of the SHOX gene
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Serveur d'exploration sur le lymphœdème

Turner syndrome presented with tall stature due to overdosage of the SHOX gene

Turner syndrome presented with tall stature due to overdosage of the SHOX gene

Source :

Abstract

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Pour générer des pages wiki

	Serveur d'exploration sur le lymphœdème
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