title: Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome.
abstract: We describe a patient who was evaluated because of delayed development. The patient had microcephaly and cafe-au-lait spots and the facial features included upward slanting of the palpebral fissures, short nasal bridge and a highly arched palate. In addition the external ears had bilateral over folded helices, there was clinodactyly of the fourth and fifth fingers and multiple cafe-au-lait spots on the back, buttocks and thighs. Chromosomal analysis of peripheral blood showed 46,XY,-r(12)(p13.3q24.33)[73]/45,XY,-12[8]/47,XY,r(12)(p13.3q24.33),+r(12)(p13.3q24.33)[2]. This is the eighth case of a patient with a ring chromosome 12 to be reported so far. The similarity of our patient to those previously described suggests that the ring chromosome 12 syndrome can be delineated as a distinct entity with characteristic clinical features.
authors.affiliation: Programa de Pós-Graduação em Patologia and Disciplina de Genética Clínica Disciplina de Genética Clinica, Fundação Faculdade Federal de Ciências Médicas, Rua Sarmento Leite 245/403, Porto Alegre, RS 90050-170, Brazil.
authors.forename: P R G
authors.initials: PRG
authors.lastname: Zen
authors.forename: L L C
authors.initials: LLC
authors.lastname: Pinto
authors.forename: C
authors.initials: C
authors.lastname: Graziadio
authors.forename: V B
authors.initials: VB
authors.lastname: Pereira
authors.forename: G A
authors.initials: GA
authors.lastname: Paskulin
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D019080:Cafe-au-Lait Spots / Q000473:pathology*; D002648:Child; D002871:Chromosome Banding; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002658:Developmental Disabilities / Q000473:pathology; D004423:Ear / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D012303:Ring Chromosomes; D013577:Syndrome