title: Thelarche variant in a girl with Angelman syndrome.
abstract: A case of Angelman syndrome (AS) with thelarche variant in a 4.5-year-old girl is presented. Clinical suspicion of AS was raised at the age of 15 months when she presented with mental retardation and epilepsy, absence of speech, ataxic gait with jerky movements, hyperactivity and paroxysmal episodes of laughter. Moreover, she had facial dysmorphic features such as microbrachycephaly, mid-facial hypoplasia, macrostomia and prominent mandible. Dinucleotide repeat polymorphism (DNRP) analysis, identified absence of maternal alleles at D15S543, D15S113 and GABRB3 loci, findings consistent with AS. Studies on CYP19 locus (outside the 15q11-13 region) revealed the presence of two different alleles, thus excluding the possibility of paternal isodisomy of chromosome 15 in this patient. Breast development at the age of 4.5 years, accompanied by accelerated growth velocity and bone age suggested the diagnosis of variant thelarche. This is the second case of AS with sexual precocity reported and whether this combination is a coincidence or not remains to be clarified.
authors.affiliation: Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: George
authors.initials: G
authors.lastname: Katzos
authors.forename: Panagiota
authors.initials: P
authors.lastname: Triantafyllou
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Gombakis
authors.forename: Christalena
authors.initials: C
authors.lastname: Sofocleous
authors.forename: Dimitrios I
authors.initials: DI
authors.lastname: Zafeiriou
mesh_terms: D000483:Alleles; D017204:Angelman Syndrome / Q000503:physiopathology* / Q000523:psychology; D001519:Behavior; D001940:Breast / Q000254:growth & development; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005260:Female; D006128:Growth; D006801:Humans; D019767:Maxillofacial Abnormalities / Q000150:complications; D008572:Menarche / Q000502:physiology*; D011629:Puberty, Precocious / Q000209:etiology*