title: 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.affiliation: Kocaeli University Medical Faculty, Department of Pediatric Endocrinology and Diabetes, Kocaeli, Turkey. E-mail: elozdr@gmail.com.
authors.forename: Elif
authors.initials: E
authors.lastname: Özsu
authors.forename: Gül Yeşiltepe
authors.initials: GY
authors.lastname: Mutlu
authors.forename: Ayşegül Bütel
authors.initials: AB
authors.lastname: Yüksel
authors.forename: Şükrü
authors.initials: Ş
authors.lastname: Hatun
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D011379:Prognosis; D013577:Syndrome