Features of Two Cases with 18q Deletion Syndrome | Zendy

Elif Özsu | Zendy; Gül Yeşiltepe Mutlu | Zendy; Ayşegül Yüksel | Zendy; Şükrü Hatun | Zendy

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Features of Two Cases with 18q Deletion Syndrome

Author(s) -

Elif Özsu,

Gül Yeşiltepe Mutlu,

Ayşegül Yüksel,

Şükrü Hatun

Publication year - 2014

Publication title -

journal of clinical research in pediatric endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.566

H-Index - 35

eISSN - 1308-5735

pISSN - 1308-5727

DOI - 10.4274/jcrpe.1183

Subject(s) - medicine , short stature , deletion syndrome , hypotonia , hearing loss , pediatrics , autoimmune thyroiditis , delayed puberty , thyroiditis , audiology , genetics , hormone , thyroid , phenotype , biology , gene

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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