TWO PATIENTS WITH X CHROMOSOME DUPLICATION: dupXp AND dupXq
Ozer O1, Yilmaz Z1, Simsek E2, Derbent M3, Guner S3, Sahin FI1*
*Corresponding Author: Feride I. Sahin, Department of Medical Genetics, Faculty of Medicine, Baskent University, Kubilay sok. No: 36, 06570 Maltepe, Ankara, Turkey; Tel.: +90-312-232-44- 00/302; Fax: +90-312-231-91-34; E-mail: feridesahin@hotmail.com
page: 59
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Abstract

Structural abnormalities of the X chromosome may lead to different phenotypes, depending on the chromosome region affected. We report phenotypic findings of two patients who had X chromosome du­plications. One had a menstrual irregularity, a low hairline, cubitus valgus and suffered from dyslexia. The other had multiple congenital anomalies, severe mental-motor retardation and intractable epilepsy. The karyotypes were 46,X,dup(X) (p11.3p21) and 46,X,dup(X)(q13q25) respectively.

Key Words: Duplication, X Chromosome
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Department of Medical Genetics, Faculty of Medi­cine, Baskent University, Ankara, Turkey Department of Obstetrics and Gynecology, Faculty of Medicine, Baskent University, Ankara, Turkey Department of Pediatrics, Faculty of Medicine, Baskent University, Ankara, Turkey




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