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

نویسندگان

چکیده

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

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ژورنال

عنوان ژورنال: Black sea journal of health science

سال: 2021

ISSN: ['2619-9041']

DOI: https://doi.org/10.19127/bshealthscience.892347