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Clinical Genetics, ISSN 0009-9163, 04/2017, Volume 91, Issue 4, pp. 576 - 588
Journal Article
Taiwanese Journal of Obstetrics and Gynecology, ISSN 1028-4559, 2011, Volume 50, Issue 3, pp. 339 - 344
Abstract Objective To present molecular cytogenetic characterization of a de novo duplication of Xq22.1→q24 in a mentally retarded woman with short stature and... 
Internal Medicine | Obstetrics and Gynecology | Duplication of Xq | PGRMC1 | NXF gene cluster | Mental retardation | Premature ovarian failure | EXPORT FACTOR NXF2 | RANDOM X-INACTIVATION | TANDEM DUPLICATION | OBSTETRICS & GYNECOLOGY | MESSENGER-RNA | ARRAY-CGH | PELIZAEUS-MERZBACHER-DISEASE | GONADAL-DYSGENESIS | FUNCTIONAL DISOMY | PRADER-WILLI-SYNDROME | DISTAL XQ
Journal Article
ARCHIVOS ARGENTINOS DE PEDIATRIA, ISSN 0325-0075, 02/2015, Volume 113, Issue 1, pp. E21 - E25
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2011, Volume 48, Issue 12, pp. 840 - 850
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2003, Volume 116A, Issue 1, pp. 71 - 76
The relationship between phenotype and Xq duplications in females remains unclear. Some females are normal; some have short stature; and others have features... 
malformations | gonadal dysgenesis | functional disomy | short stature | developmental delay | asymmetry | X chromosome abnormalities | Turner syndrome | Xq duplication | Gonadal dysgenesis | Malformations | Asymmetry | Short stature | Developmental delay | Functional disomy | ANOMALIES | FEMALES | LONG ARM | INACTIVATION | CHROMOSOME | ORIGIN | GENETICS & HEREDITY