title: Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development.
abstract: 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.
authors.affiliation: Clinical Genetics Center Utrecht, The Netherlands.
authors.forename: M G
authors.initials: MG
authors.lastname: Ausems
authors.forename: H G
authors.initials: HG
authors.lastname: Van Spijker
authors.forename: H J
authors.initials: HJ
authors.lastname: Dijkhuis
authors.forename: H F
authors.initials: HF
authors.lastname: Swanenburg De Veye
authors.forename: J B
authors.initials: JB
authors.lastname: Bijlsma
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002898:Chromosomes, Human, Pair 8; D002899:Chromosomes, Human, Pair 9; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009006:Monosomy; D010641:Phenotype; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics; D014314:Trisomy