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.
Ausems
M G
MG
Clinical Genetics Center Utrecht, The Netherlands.
Van Spijker
H G
HG
Dijkhuis
H J
HJ
Swanenburg De Veye
H F
HF
Bijlsma
J B
JB
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