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Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome.
Zen, P R G; Pinto, L L C; Graziadio, C; Pereira, V B; Paskulin, G A.
Afiliación
  • Zen PRG; 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.
Clin Dysmorphol ; 14(3): 141-143, 2005 Jul.
Article en En | MEDLINE | ID: mdl-15930904
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.
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosomas en Anillo / Anomalías Múltiples / Cromosomas Humanos Par 12 / Manchas Café con Leche / Microcefalia Tipo de estudio: Risk_factors_studies Límite: Child / Humans / Male Idioma: En Revista: Clin Dysmorphol Asunto de la revista: TERATOLOGIA Año: 2005 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Reino Unido
Buscar en Google
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Imprimir
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosomas en Anillo / Anomalías Múltiples / Cromosomas Humanos Par 12 / Manchas Café con Leche / Microcefalia Tipo de estudio: Risk_factors_studies Límite: Child / Humans / Male Idioma: En Revista: Clin Dysmorphol Asunto de la revista: TERATOLOGIA Año: 2005 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Reino Unido