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Unbalanced three-way chromosomal translocation leading to deletion 18q and duplication 20p.

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.

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  • Authors+Show Affiliations

    ,

    Department of Clinical Genetics, Erasmus MC, Postbus 2040, 3000 CA, Rotterdam, The Netherlands. r.oegema@erasmusmc.nl

    , , ,

    Source

    MeSH

    Abnormalities, Multiple
    Adult
    Base Sequence
    Chromosome Deletion
    Chromosome Duplication
    Chromosomes, Human, Pair 17
    Chromosomes, Human, Pair 18
    Chromosomes, Human, Pair 20
    Follow-Up Studies
    Humans
    Karyotyping
    Male
    Molecular Sequence Data
    Oligonucleotide Array Sequence Analysis
    Translocation, Genetic

    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 -