Article
Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1996
Ausems M G, Van Spijker H G, Dijkhuis H J, Swanenburg De Veye H F, Bijlsma J B
Abstract excerpt
A patient is described with partial trisomy 9p and partial monosomy 8p due to a maternal translocation (t(8;9)(p23;p13)). The clinical phenotype is compatible with the partial trisomy 9p syndrome. This is a clinically recognizable syndrome with mental retardation as a constant feature. Little is...
Topics
- Abnormalities, Multiple
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 8
- Chromosomes, Human, Pair 9
- Follow-Up Studies
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability
- Male
- Monosomy
- Phenotype
- Psychomotor Disorders
- Syndrome
- Translocation, Genetic