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
Description
Summary: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.
ISSN:1300-2945
1308-9889

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