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

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

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

Makale detayları

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

Yazarlar:

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

Yayıncı:

Cem TIRINK

Ana Başlıklar:

Hastalıklar

Dergi:

Black Sea Journal of Health Science 2021 Vol.4 Issue 3, pp.300-303

Belge Tipi:

Makale

Yayın Tarihi:

8/2021

Belge Dili:

İngilizce

Document ID (Org No.):

2000895617

Sıklık:

Üç Yıllık

eISSN:

2619-9041

DOI:

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

Özet:

 

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.

Makale detayları

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

Yazarlar: Selma SOLGUN | Sevda CANBAY DURMAZ | Davut ÖZBAĞ | Sibel ATEŞOĞLU KARABAŞ

Yayıncı: Cem TIRINK

Ana Başlıklar: Hastalıklar

Dergi: Black Sea Journal of Health Science 2021 Vol.4 Issue 3, pp.300-303

Belge Tipi: Makale

Yayın Tarihi: 8/2021

Belge Dili: İngilizce

Document ID (Org No.): 2000895617

Sıklık: Üç Yıllık

eISSN: 2619-9041

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

Sayı

Yazarlar:

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

Yayıncı:

Cem TIRINK

Ana Başlıklar:

Hastalıklar

Dergi:

Black Sea Journal of Health Science 2021 Vol.4 Issue 3, pp.300-303

Belge Tipi:

Makale

Yayın Tarihi:

8/2021

Belge Dili:

İngilizce

Document ID (Org No.):

2000895617

Sıklık:

Üç Yıllık

eISSN:

2619-9041

DOI:

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