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Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome.
Clin Dysmorphol. 2005 Jul; 14(3):141-143.CD

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+Show Affiliations

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.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

15930904

Citation

Zen, P R G., et al. "Association of Microcephaly and Cafe-au-lait Spots in a Patient With Ring Chromosome 12 Syndrome." Clinical Dysmorphology, vol. 14, no. 3, 2005, pp. 141-143.
Zen PRG, Pinto LLC, Graziadio C, et al. Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome. Clin Dysmorphol. 2005;14(3):141-143.
Zen, P. R. G., Pinto, L. L. C., Graziadio, C., Pereira, V. B., & Paskulin, G. A. (2005). Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome. Clinical Dysmorphology, 14(3), 141-143.
Zen PRG, et al. Association of Microcephaly and Cafe-au-lait Spots in a Patient With Ring Chromosome 12 Syndrome. Clin Dysmorphol. 2005;14(3):141-143. PubMed PMID: 15930904.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndrome. AU - Zen,P R G, AU - Pinto,L L C, AU - Graziadio,C, AU - Pereira,V B, AU - Paskulin,G A, PY - 2005/6/3/pubmed PY - 2005/9/21/medline PY - 2005/6/3/entrez SP - 141 EP - 143 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 14 IS - 3 N2 - 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. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/15930904/Association_of_microcephaly_and_cafe_au_lait_spots_in_a_patient_with_ring_chromosome_12_syndrome_ L2 - https://journals.lww.com/15930904.pmid DB - PRIME DP - Unbound Medicine ER -