A Case with 46,XX,dup(X)(q21.3q24) karyotype

A Case with 46,XX,dup(X)(q21.3q24) karyotype

The relationship between phenotype and Xq duplicationsin females remains unclear. Some females are normal;some have short stature; and others have features suchas microcephaly, developmental delay/mental retardation,body asymmetries, and gonadal dysgenesis. Somefeatures in these females resemble tho...

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Bibliographic Details
Main Authors: Selda Şimşek, Alpaslan K. Tuzcu, Diclehan Oral, Turgay Budak
Format: Article
Language:English
Published: Dicle University Medical School 2010-03-01
Series:Dicle Medical Journal
Subjects:
Duplication
primer amenorrhea
chromosome analysis
in-situ hybridisation
Online Access:http://4181.indexcopernicus.com/fulltxt.php?ICID=906160
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spelling doaj-1d278aa31ea346d29c607ebf00e7dd322020-11-24T23:33:00ZengDicle University Medical SchoolDicle Medical Journal 1300-29451308-98892010-03-013715153A Case with 46,XX,dup(X)(q21.3q24) karyotypeSelda ŞimşekAlpaslan K. TuzcuDiclehan OralTurgay BudakThe relationship between phenotype and Xq duplicationsin females remains unclear. Some females are normal;some have short stature; and others have features suchas microcephaly, developmental delay/mental retardation,body asymmetries, and gonadal dysgenesis. Somefeatures in these females resemble those in Turner syndrome.We, herein, presented a 15 years-old girl withshort stature and primary amenorrhea, who was referredto cytogenetic laboratory. Through karyotipe analysis performedby Giemsa banding technique, the patient wasdetermined to have positive Barr body and 46,XX,dup(X)(q21.3q24) chromosomal constitution. Case was discussedaccording to information of present literatures.http://4181.indexcopernicus.com/fulltxt.php?ICID=906160Duplicationprimer amenorrheachromosome analysisin-situ hybridisation
collection DOAJ
language English
format Article
sources DOAJ
author Selda Şimşek
Alpaslan K. Tuzcu
Diclehan Oral
Turgay Budak
spellingShingle Selda Şimşek
Alpaslan K. Tuzcu
Diclehan Oral
Turgay Budak
A Case with 46,XX,dup(X)(q21.3q24) karyotype
Dicle Medical Journal
Duplication
primer amenorrhea
chromosome analysis
in-situ hybridisation
author_facet Selda Şimşek
Alpaslan K. Tuzcu
Diclehan Oral
Turgay Budak
author_sort Selda Şimşek
title A Case with 46,XX,dup(X)(q21.3q24) karyotype
title_short A Case with 46,XX,dup(X)(q21.3q24) karyotype
title_full A Case with 46,XX,dup(X)(q21.3q24) karyotype
title_fullStr A Case with 46,XX,dup(X)(q21.3q24) karyotype
title_full_unstemmed A Case with 46,XX,dup(X)(q21.3q24) karyotype
title_sort case with 46,xx,dup(x)(q21.3q24) karyotype
publisher Dicle University Medical School
series Dicle Medical Journal
issn 1300-2945
1308-9889
publishDate 2010-03-01
description The relationship between phenotype and Xq duplicationsin females remains unclear. Some females are normal;some have short stature; and others have features suchas microcephaly, developmental delay/mental retardation,body asymmetries, and gonadal dysgenesis. Somefeatures in these females resemble those in Turner syndrome.We, herein, presented a 15 years-old girl withshort stature and primary amenorrhea, who was referredto cytogenetic laboratory. Through karyotipe analysis performedby Giemsa banding technique, the patient wasdetermined to have positive Barr body and 46,XX,dup(X)(q21.3q24) chromosomal constitution. Case was discussedaccording to information of present literatures.
topic Duplication
primer amenorrhea
chromosome analysis
in-situ hybridisation
url http://4181.indexcopernicus.com/fulltxt.php?ICID=906160
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