title: 46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious puberty.
abstract: We report a 20 month old female patient with diploid-triploid mixoploidy (46,XX/69,XXX) syndrome with hypothyroidism and precocious puberty. The triploid cell line was only expressed in the fibroblast culture and comprised the majority (95%) of the cells. Chromosome analysis of the fetal blood sample and peripheral blood sample were normal. The patient shows typical features of full triploidy (growth and severe mental retardation, cranial and facial dysmorphism, complete syndactyly of fingers 3/4, partial syndactyly of toes 2/3) and facial but no body asymmetry. At the age of 5 months central hypothyroidism and precocious puberty were diagnosed. Thin pigmented streaks were visible on the wrists and legs of the patient at the age of 16 months. This is the first patient reported so far with 46,XX/69,XXX mixoploidy suffering from hypothyroidism and precocious puberty.
authors.affiliation: Department of Medical Genetics, Helsinki University Hospital, Finland.
authors.forename: I E
authors.initials: IE
authors.lastname: Järvelä
authors.forename: M K
authors.initials: MK
authors.lastname: Salo
authors.forename: P
authors.initials: P
authors.lastname: Santavuori
authors.forename: R K
authors.initials: RK
authors.lastname: Salonen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D004171:Diploidy; D005146:Facial Asymmetry / Q000235:genetics; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D017880:Limb Deformities, Congenital; D009030:Mosaicism; D011123:Polyploidy; D011629:Puberty, Precocious / Q000235:genetics*; D013036:Spasms, Infantile / Q000235:genetics