Article
[Double aneuploidy (trisomy X, trisomy 18) in a newborn with trisomy 18 phenotype].
Archivos argentinos de pediatria - 1 Jan 2000
Pachajoa Harry
Abstract excerpt
We report the case of a newborn girl with a double trisomy, with a chromosome complement 48,XXX,+18, with Edwards syndrome phenotype (trisomy 18). The clinical feature included intrauterine growth retardation, dysmorphic facies, hand with overlapping fingers, ventricular septal defect, pulmonary stenosis and left clubfoot. A review of the literature and discussion of previously reported cases is made.
Topics
- Aneuploidy
- Chromosomes, Human, Pair 18
- Chromosomes, Human, X
- Female
- Humans
- Infant, Newborn
- Phenotype
- Sex Chromosome Aberrations
- Sex Chromosome Disorders of Sex Development
- Trisomy
- Trisomy 18 Syndrome