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

Yıl 2021, Cilt: 4 Sayı: 3, 300 - 303, 01.09.2021

Selma Solgun , Sevda Canbay Durmaz , Davut Özbağ , Sibel Ateşoğlu Karabaş

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

Öz

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.

Anahtar Kelimeler

Dysmorphism, Genetic, Trisomy

Kaynakça

• Buerger H, Simon R, Schafer KL. Genetic relation of lobular carcinoma in situ, ductal carcinoma in situ, and associated invasive carcinoma of the breast. Mol Pathol, 53: 118-121.
• Bükülmez A, Köken R, Melek H. 2009. 1Q Duplikasyon sendromu: Nadir bir olgu. ADÜ Tıp Fak Derg, 10(1): 29-31.
• Chan NP, Ng MH, Cheng SH. 2002. Hereditary duplication of proximal choromosome 1q (q11q22) in patient with T lymphobalstic lymphoma/leukamia: a familiy study using G banding and comparative genomic hybridisation. J Med Genet, 39: 79.
• Çınar Kuşkucu A. 2010. Fetal kromozom anomalisi tarama testleri. JOPP Derg, 2(2): 55-60.
• Fromont G, Vallancien G, Validire P. 2007. BCAR1 expression in prostate cancer: association with 16q23 LOH status, tumor progression and EGFR/KAI1 staining. Prostate, 67: 268-273.
• Güneş S, Ökten G, Kara N. 2005. Konjenital malformasyonlu olgularda kromozomal anomaliler. O.M.Ü Tıp Derg, 22(3): 113-118.
• Matthews CP, Shera KA, McDougall JK. 2000. Genomic changes and HPV type in cervical carcinoma. Proc Soc Exp Biol Med, 223: 316-321.
• Nowaczyk MJ, Bayani J, Freeman V. 2003.De novo 1q32q44 duplication and distal 1q trisomy syndrome. Am J Med Genet A, 120(2): 229-233.
• Pettenati MJ, Berry M, Shashi V. 2001.Prenatal diagnosis of complete sole trisomy 1q. Prenat Diagn, 21(6): 435-440.
• Van Haelst MM, Eussen HJ, Visscher F. 2002. Silver-Russell phenotypein a patient with püre trisomy 1q32.1-q42.1: further delination of the pure 1q trisomy syndrome. J Med Genet, 39: 582-585.
• Yang YM, Liu TH, Chen YJ. 2005. Chromosome 1q loss of heterozygosity frequently occurs in sporadic insulinomas and is associated with tumor malignancy. Int J Cancer, 117: 234-240.
• Yirmibeş Karaoğuz M. 2007. İnsandaki genetik hastalıklar. MİSED, 19(20): 5-15.
• Zamani AG. 2007. Genetik tanı yöntemleri. Türk Toraks Derneği 10.Yıllık Kongresi, Kurs kitabı, Antalya, pp: 143-161.
• Zamani AG. 2013. Göğüs hastalıklarında araştırmalara genetik yaklaşım: genetik yöntemler. Türk Toraks Derg, 14(Supp 2):15-19.
• Zhou CZ, Qiu GQ, Fan JW. 2008. Refined mapping of loss of heterozygosity on 1q31.1-32.1 in sporadic colorectal carcinoma. WJG, 14(10): 1582-1587.