Tags

Type your tag names separated by a space and hit enter

Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome.
Eur J Med Genet 2009 Mar-Jun; 52(2-3):145-7EJ

Abstract

We report on a patient with a microdeletion of chromosome region 9q22.32q31.1 including the PTCH1 gene (human homologue of the Drosophila patched 1 gene), review the findings in the reported patients with similar array CGH findings, and highlight the non nevoid basal cell carcinoma/non-Gorlin syndrome findings at an earlier age. These are macrocephaly, neonatal hypotonia, severe psychomotor retardation with markedly delayed motor milestones and speech development, epicanthic folds, a thin upper lip, a short and wide/webbed neck, pectus excavatum and (kypho)scoliosis. These features should alert the physician to an early diagnosis of the microdeletion and allow the initiation of essential clinical management hereof.

Authors+Show Affiliations

Centre for Human Genetics, UZ Leuven, Herestraat 49, 3000 Leuven, Belgium. thomy.deravel@uzleuven.beNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19233320

Citation

de Ravel, Thomy J L., et al. "Early Detection of Chromosome 9q22.32q31.1 Microdeletion and the Nevoid Basal Cell Carcinoma Syndrome." European Journal of Medical Genetics, vol. 52, no. 2-3, 2009, pp. 145-7.
de Ravel TJ, Ameye L, Ballon K, et al. Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome. Eur J Med Genet. 2009;52(2-3):145-7.
de Ravel, T. J., Ameye, L., Ballon, K., Borghgraef, M., Vermeesch, J. R., & Devriendt, K. (2009). Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome. European Journal of Medical Genetics, 52(2-3), pp. 145-7. doi:10.1016/j.ejmg.2009.02.002.
de Ravel TJ, et al. Early Detection of Chromosome 9q22.32q31.1 Microdeletion and the Nevoid Basal Cell Carcinoma Syndrome. Eur J Med Genet. 2009;52(2-3):145-7. PubMed PMID: 19233320.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome. AU - de Ravel,Thomy J L, AU - Ameye,Liliane, AU - Ballon,Katleen, AU - Borghgraef,Martine, AU - Vermeesch,Joris R, AU - Devriendt,Koen, Y1 - 2009/02/21/ PY - 2008/12/30/received PY - 2009/02/10/accepted PY - 2009/2/24/entrez PY - 2009/2/24/pubmed PY - 2009/9/2/medline SP - 145 EP - 7 JF - European journal of medical genetics JO - Eur J Med Genet VL - 52 IS - 2-3 N2 - We report on a patient with a microdeletion of chromosome region 9q22.32q31.1 including the PTCH1 gene (human homologue of the Drosophila patched 1 gene), review the findings in the reported patients with similar array CGH findings, and highlight the non nevoid basal cell carcinoma/non-Gorlin syndrome findings at an earlier age. These are macrocephaly, neonatal hypotonia, severe psychomotor retardation with markedly delayed motor milestones and speech development, epicanthic folds, a thin upper lip, a short and wide/webbed neck, pectus excavatum and (kypho)scoliosis. These features should alert the physician to an early diagnosis of the microdeletion and allow the initiation of essential clinical management hereof. SN - 1878-0849 UR - https://www.unboundmedicine.com/medline/citation/19233320/Early_detection_of_chromosome_9q22_32q31_1_microdeletion_and_the_nevoid_basal_cell_carcinoma_syndrome_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(09)00009-3 DB - PRIME DP - Unbound Medicine ER -