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: P R G Zen, L L C Pinto, C Graziadio, V B Pereira, G A Paskulin
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 14 Issue 3 Pg. 141-143 (Jul 2005) ISSN: 0962-8827 [Print] England
• PMID: 15930904 (Publication Type: Case Reports, Journal Article, Review)

Topics

• 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