Author/Authors :
Şimşek, Selda Dicle Üniversitesi - Tıp Fakültesi - Tıbbi Biyoloji ve Genetik Anabilim Dalı, Turkey , Tuzcu, Alpaslan K. Dicle Üniversitesi - Tıp Fakültesi - Endokrinoloji Anabilim Dalı, Turkey , Oral, Diclehan Dicle Üniversitesi - Tıp Fakültesi - Tıbbi Biyoloji ve Genetik Anabilim Dalı, Turkey , Budak, Turgay Dicle Üniversitesi - Tıp Fakültesi - Tıbbi Biyoloji ve Genetik Anabilim Dalı, Turkey
Title Of Article :
A Case with 46,XX,dup(X)(q21.3q24) karyotype
Abstract :
The relationship between phenotype and Xq duplications in females remains unclear. Some females are normal; some have short stature; and others have features such as microcephaly, developmental delay/mental retardation, body asymmetries, and gonadal dysgenesis. Some features in these females resemble those in Turner syndrome. We, herein, presented a 15 years-old girl with short stature and primary amenorrhea, who was referred to cytogenetic laboratory. Through karyotipe analysis performed by Giemsa banding technique, the patient was determined to have positive Barr body and 46,XX,dup(X) (q21.3q24) chromosomal constitution. Case was discussed according to information of present literatures.
NaturalLanguageKeyword :
Duplication , primer amenorrhea , chromosome analysis , in , situ hybridisation
JournalTitle :
Dicle Medical Journal
