Two Patients with X Chromosome Duplication: dupXp and dupXq

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. Th...

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Bibliographic Details
Published in:Balkan journal of medical genetics 2009-01, Vol.12 (2), p.59-63
Main Authors: Ozer, O, Yilmaz, Z, Simsek, E, Derbent, M, Guner, S, Sahin, F
Format: Article
Language:English
Subjects:
Duplication
X Chromosome
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Summary: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.
ISSN:1311-0160
2199-5761
DOI:10.2478/v10034-010-0008-6