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Features of two cases with 18q deletion syndrome.

Abstract

The 18q Deletion syndrome is seen in 1 out of 10 000 live births. The main features of the syndrome are short stature, hearing loss, hypotonia, mental retardation, endocrine disorders and autoimmunity. Here, we present 2 patients with this syndrome admitted to our clinic who were found to have insulin resistance in addition to mental retardation, short stature, autoimmune thyroiditis and hearing loss. The need to perform a karyogram analysis in cases presenting with these features is emphasized.

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  • Authors+Show Affiliations

    ,

    Kocaeli University Medical Faculty, Department of Pediatric Endocrinology and Diabetes, Kocaeli, Turkey. E-mail: elozdr@gmail.com.

    , ,

    Source

    MeSH

    Abnormalities, Multiple
    Adolescent
    Child
    Chromosome Deletion
    Chromosome Disorders
    Chromosomes, Human, Pair 18
    Dwarfism
    Female
    Humans
    Intellectual Disability
    Prognosis
    Syndrome

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    24637311

    Citation

    Özsu, Elif, et al. "Features of Two Cases With 18q Deletion Syndrome." Journal of Clinical Research in Pediatric Endocrinology, vol. 6, no. 1, 2014, pp. 51-4.
    Özsu E, Mutlu GY, Yüksel AB, et al. Features of two cases with 18q deletion syndrome. J Clin Res Pediatr Endocrinol. 2014;6(1):51-4.
    Özsu, E., Mutlu, G. Y., Yüksel, A. B., & Hatun, Ş. (2014). Features of two cases with 18q deletion syndrome. Journal of Clinical Research in Pediatric Endocrinology, 6(1), pp. 51-4. doi:10.4274/Jcrpe.1183.
    Özsu E, et al. Features of Two Cases With 18q Deletion Syndrome. J Clin Res Pediatr Endocrinol. 2014;6(1):51-4. PubMed PMID: 24637311.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Features of two cases with 18q deletion syndrome. AU - Özsu,Elif, AU - Mutlu,Gül Yeşiltepe, AU - Yüksel,Ayşegül Bütel, AU - Hatun,Şükrü, PY - 2014/3/19/entrez PY - 2014/3/19/pubmed PY - 2014/11/14/medline SP - 51 EP - 4 JF - Journal of clinical research in pediatric endocrinology JO - J Clin Res Pediatr Endocrinol VL - 6 IS - 1 N2 - The 18q Deletion syndrome is seen in 1 out of 10 000 live births. The main features of the syndrome are short stature, hearing loss, hypotonia, mental retardation, endocrine disorders and autoimmunity. Here, we present 2 patients with this syndrome admitted to our clinic who were found to have insulin resistance in addition to mental retardation, short stature, autoimmune thyroiditis and hearing loss. The need to perform a karyogram analysis in cases presenting with these features is emphasized. SN - 1308-5735 UR - https://www.unboundmedicine.com/medline/citation/24637311/Features_of_two_cases_with_18q_deletion_syndrome_ L2 - https://doi.org/10.4274/Jcrpe.1183 DB - PRIME DP - Unbound Medicine ER -