Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development.
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 known about the outcome and level of functioning of patients with this condition. We present the follow-up of a patient with partial trisomy 9p who has been regularly examined from birth until age 10 years.
Abnormalities, Multiple↗