
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 download article in pdf format
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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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