Article
Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterization.
American journal of medical genetics. Part A - 15 May 2008
Monnot Sophie, Giuliano Fabienne, Massol Christophe, Fossoud Catherine, Cossée Mireille, Lambert Jean-Claude, Karmous-Benailly Houda
Abstract excerpt
Partial duplications of the short arm of the X chromosome are relatively rare and have been described in males and females. We describe a 4 10/12-year-old girl presenting with developmental delay, severe language retardation and minor anomalies with slightly elevated head circumference (+1.8 SD), prominent forehead, wide palpebral fissures and anteverted nares. No pigmentary dysplasia of the skin was present. The...
Topics
- Child, Preschool
- Chromosomes, Human, X
- Craniofacial Abnormalities
- Cytogenetic Analysis
- Developmental Disabilities
- Female
- Gene Duplication
- Humans
- In Situ Hybridization, Fluorescence
- Phenotype
- Sex Chromosome Aberrations
- X Chromosome Inactivation