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.
AuthorsP R G Zen, L L C Pinto, C Graziadio, V B Pereira, G A Paskulin
JournalClinical dysmorphology (Clin Dysmorphol) Vol. 14 Issue 3 Pg. 141-3 (Jul 2005) ISSN: 0962-8827 [Print] England
PMID15930904 (Publication Type: Case Reports, Journal Article, Review)
  • Abnormalities, Multiple (genetics, pathology)
  • Cafe-au-Lait Spots (pathology)
  • Child
  • Chromosome Banding
  • Chromosomes, Human, Pair 12 (genetics)
  • Developmental Disabilities (pathology)
  • Ear (abnormalities)
  • Fingers (abnormalities)
  • Humans
  • Karyotyping
  • Male
  • Microcephaly (pathology)
  • Ring Chromosomes
  • Syndrome

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