<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>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.</p></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.

Two Patients with X Chromosome Duplication: dupXp and dupXq

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

Balkan Journal of Medical Genetics

{"article-title":"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 with X Chromosome Duplication: dupXp and dupXq

Publié en ligne: 19 févr. 2010

Pages: 59 - 63

DOI: https://doi.org/10.2478/v10034-010-0008-6

Mots clés
Duplication, X Chromosome

This content is open access.

Two Patients with X Chromosome Duplication: dupXp and dupXq

Publié en ligne: 19 févr. 2010

Pages: 59 - 63

DOI: https://doi.org/10.2478/v10034-010-0008-6

Mots clésDuplication, X Chromosome

This content is open access.

Mots clés
Duplication, X Chromosome