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 known about the outcome and level of functioning of patients with this condition. We present the follow-up of a patient...
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