The 9p- deletion syndrome. A patient with a 45, XX-9, -15, +t(9/15) constitution due to maternal 3:1 meiotic disjunction.
Deletion of the short arm of chromosome 9, derived from a 3:1 meiotic segregation in the mother, carrier of a balanced 9/15 translocation, was found in a 3-year-old female. Severe psychomotor retardation with delayed speech, brachicephaly, flat occiput hypertelorism and long upper lip were the main signs in the girl.
D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D008540:Meiosis; D011596:Psychomotor Disorders / Q000235:genetics; D014178:Translocation, Genetic