Article
Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH.
Cytogenetic and genome research - 1 Jan 2007
Yu S, Barbouth D, Benke P J, Warburton P E, Fan Y-S
Abstract excerpt
A small supernumerary marker chromosome (SMC) was observed in a girl with severe developmental delay. Her dysmorphism included prominent forehead, hypertelorism, down-slanting palpebral fissures, low-set/large ears, and flat nasal bridge with anteverted nares. This case also presented hypotonia, hypermobility of joints, congenital heart defect, umbilical hernia, failure to thrive, and seizures. The SMC originated...
Topics
- Abnormalities, Multiple
- Child, Preschool
- Chromosomal Proteins, Non-Histone
- Chromosome Mapping
- Chromosomes
- Chromosomes, Human, X
- DNA
- Family Health
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Male
- Nucleic Acid Hybridization
- Phenotype