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A 797 kb de novo deletion of 18q21.31 in a patient with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies.

Abstract

We report a 797 kb de novo interstitial deletion of 18q21.31 in a 6-year-old boy with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies. Examination of the region showed two genes, TXNL1 and WDR7, to be involved in the deletion. Haploinsufficiency of these genes could potentially contribute to the phenotype. Our patient has some clinical features that overlap with earlier described patients with a larger deletion of the distal part of chromosome 18q. The small deletion in region 18q21.31 may be responsible for some of the common features found in patients with larger 18q deletions.

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  • Authors

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    MeSH

    Abnormalities, Multiple
    Adaptor Proteins, Signal Transducing
    Child
    Chromosome Deletion
    Chromosomes, Human, Pair 18
    Face
    Foot Deformities, Congenital
    Haploinsufficiency
    Humans
    Intellectual Disability
    Language Development Disorders
    Male
    Sleep Wake Disorders
    Thioredoxins

    Pub Type(s)

    Case Reports
    Letter

    Language

    eng

    PubMed ID

    20870045

    Citation

    van Diepen, Mireille M L., et al. "A 797 kb De Novo Deletion of 18q21.31 in a Patient With Speech Delay, Mental Retardation, Sleeping Problems, Facial Dysmorphism, and Feet Anomalies." European Journal of Medical Genetics, vol. 54, no. 1, 2011, pp. 86-8.
    van Diepen MM, Gijsbers AC, Bosch CA, et al. A 797 kb de novo deletion of 18q21.31 in a patient with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies. Eur J Med Genet. 2011;54(1):86-8.
    van Diepen, M. M., Gijsbers, A. C., Bosch, C. A., Oudesluys-Murphy, A. M., Ruivenkamp, C. A., & Bijlsma, E. K. (2011). A 797 kb de novo deletion of 18q21.31 in a patient with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies. European Journal of Medical Genetics, 54(1), pp. 86-8. doi:10.1016/j.ejmg.2010.09.003.
    van Diepen MM, et al. A 797 kb De Novo Deletion of 18q21.31 in a Patient With Speech Delay, Mental Retardation, Sleeping Problems, Facial Dysmorphism, and Feet Anomalies. Eur J Med Genet. 2011;54(1):86-8. PubMed PMID: 20870045.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - A 797 kb de novo deletion of 18q21.31 in a patient with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies. AU - van Diepen,Mireille M L, AU - Gijsbers,Antoinet C J, AU - Bosch,Cathy A J, AU - Oudesluys-Murphy,Anne Marie, AU - Ruivenkamp,Claudia A L, AU - Bijlsma,Emilia K, Y1 - 2010/09/24/ PY - 2010/05/09/received PY - 2010/09/15/accepted PY - 2010/9/28/entrez PY - 2010/9/28/pubmed PY - 2011/6/15/medline SP - 86 EP - 8 JF - European journal of medical genetics JO - Eur J Med Genet VL - 54 IS - 1 N2 - We report a 797 kb de novo interstitial deletion of 18q21.31 in a 6-year-old boy with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies. Examination of the region showed two genes, TXNL1 and WDR7, to be involved in the deletion. Haploinsufficiency of these genes could potentially contribute to the phenotype. Our patient has some clinical features that overlap with earlier described patients with a larger deletion of the distal part of chromosome 18q. The small deletion in region 18q21.31 may be responsible for some of the common features found in patients with larger 18q deletions. SN - 1878-0849 UR - https://www.unboundmedicine.com/medline/citation/20870045/A_797 kb_de_novo_deletion_of_18q21_31_in_a_patient_with_speech_delay_mental_retardation_sleeping_problems_facial_dysmorphism_and_feet_anomalies_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(10)00099-6 DB - PRIME DP - Unbound Medicine ER -