Selma SOLGUN, Sevda CANBAY DURMAZ, Davut ÖZBAĞ, Sibel ATEŞOĞLU KARABAŞ

Trisomy of 1q31.3q42.12 Chromosome: Case Report

Chromosome 1q duplication is one of the rare congenital anomalies accompanied by numerous visceral organ anomalies, dysmorphism, and psychomotor retardation. Our case is an 8-year-old male patient with 1q31.3q42.12 trisomy. The patient was brought to our rehabilitation center because he couldn't able to go up and down stairs and slopes without support also he couldn’t run and jump. The patient receives physical therapy service for kyphotic posture, speech therapy for speech and drooling problems, and special education support for mild cognitive impairment. Our aim is to describe the dysmorphic features and posture examination of an 8-year-old male patient with chromosome 1q31.3q42.12 trisomy. In lateral, anterior and posterior posture examination, various anatomic and dysmorphic problems were observed on the patient. To improve the life quality and comfort of the patient, it should be prepared necessary treatment plans for this patients.

Keywords:

Dysmorphism, Genetic, Trisomy,

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