Partial 9p monosomy--a case with hypothyroidism.
A 4-yr-old boy with psycho-motor retardation, microcephaly, flat occipital, mongoloid slant, macrostomia with thickened lower lip and long filiform fingers is presented. Cytogenetically, the boy presents a "de novo" terminal 9p deletion. Complex endocrine exploration reveals the presence of hypothyroidism.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics / Q000473:pathology*; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D008297:Male; D013577:Syndrome