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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome.

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.[1]


  1. Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome. Zen, P.R., Pinto, L.L., Graziadio, C., Pereira, V.B., Paskulin, G.A. Clin. Dysmorphol. (2005) [Pubmed]
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