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Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p.
Eur J Med Genet 2012; 55(4):265-8EJ

Abstract

In 1980, a case report on a boy with cleft palate, club feet, dysmorphic features, and developmental delay was published by Bijlsma as a possible distinct syndrome. This case is listed in the London Medical Databases version 1.0. We have reevaluated this patient at adult age. Using high resolution karyotyping and Affymetrix 250k SNP array analysis we identified an unbalanced three-way translocation with breakpoints at 17q22, 18q22.1, and 20p12.2 leading to deletion 18q and duplication 20p. Also, a 715 kb duplication in 1p34.2 and a 245 kb deletion at 1p21.1 were found. Mental retardation, cleft palate, and club feet have repeatedly been reported in deletion 18q patients and therefore we conclude that most of the patient's features can be explained by an 18q deletion.

Authors+Show Affiliations

Department of Clinical Genetics, Erasmus MC, Postbus 2040, 3000 CA, Rotterdam, The Netherlands. r.oegema@erasmusmc.nlNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22406089

Citation

Oegema, Renske, et al. "Unbalanced Three-way Chromosomal Translocation Leading to Deletion 18q and Duplication 20p." European Journal of Medical Genetics, vol. 55, no. 4, 2012, pp. 265-8.
Oegema R, van Zutven LJ, van Hassel DA, et al. Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p. Eur J Med Genet. 2012;55(4):265-8.
Oegema, R., van Zutven, L. J., van Hassel, D. A., Huijbregts, G. C., & Hoogeboom, A. J. (2012). Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p. European Journal of Medical Genetics, 55(4), pp. 265-8. doi:10.1016/j.ejmg.2012.01.015.
Oegema R, et al. Unbalanced Three-way Chromosomal Translocation Leading to Deletion 18q and Duplication 20p. Eur J Med Genet. 2012;55(4):265-8. PubMed PMID: 22406089.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p. AU - Oegema,Renske, AU - van Zutven,Laura J C M, AU - van Hassel,Daniella A C M, AU - Huijbregts,Guido C M, AU - Hoogeboom,A Jeannette M, Y1 - 2012/02/21/ PY - 2011/10/12/received PY - 2012/01/30/accepted PY - 2012/3/13/entrez PY - 2012/3/13/pubmed PY - 2012/8/23/medline SP - 265 EP - 8 JF - European journal of medical genetics JO - Eur J Med Genet VL - 55 IS - 4 N2 - In 1980, a case report on a boy with cleft palate, club feet, dysmorphic features, and developmental delay was published by Bijlsma as a possible distinct syndrome. This case is listed in the London Medical Databases version 1.0. We have reevaluated this patient at adult age. Using high resolution karyotyping and Affymetrix 250k SNP array analysis we identified an unbalanced three-way translocation with breakpoints at 17q22, 18q22.1, and 20p12.2 leading to deletion 18q and duplication 20p. Also, a 715 kb duplication in 1p34.2 and a 245 kb deletion at 1p21.1 were found. Mental retardation, cleft palate, and club feet have repeatedly been reported in deletion 18q patients and therefore we conclude that most of the patient's features can be explained by an 18q deletion. SN - 1878-0849 UR - https://www.unboundmedicine.com/medline/citation/22406089/Unbalanced_three_way_chromosomal_translocation_leading_to_deletion_18q_and_duplication_20p_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(12)00036-5 DB - PRIME DP - Unbound Medicine ER -