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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.

Authors+Show Affiliations

Kocaeli University Medical Faculty, Department of Pediatric Endocrinology and Diabetes, Kocaeli, Turkey. E-mail: elozdr@gmail.com.No affiliation info availableNo affiliation info availableNo affiliation info available

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 -