International Journal of Molecular and Cellular Medicine (IJMCM)
Cellular and Molecular Biology Research Center, Babol University of Medical Sciences
پنجشنبه 22 آذر 1403
[Archive]
دوره 3، شماره 4 - ( 6-1393 )
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Heydari S, Hassanzadeh F, Hassanzadeh Nazarabadi M. Ring Chromosome 18: A Case Report. Int J Mol Cell Med 2014; 3 (4) :287-289
URL: http://ijmcmed.org/article-1-215-fa.html
URL: http://ijmcmed.org/article-1-215-fa.html
Ring Chromosome 18: A Case Report. مجله بین المللی سلولی و مولکولی. 1393; 3 (4) :287-289
: (9384 مشاهده)
Ring chromosomes are rare chromosomal disorders that usually appear to occur de novo. A ring chromosome forms when due to deletion both ends of chromosome fuse with each other. Depending on the amount of chromosomal deletion, the clinical manifestations may be different. So, ring 18 syndrome is characterized by severe mental growth retardation as well as microcephaly, brain and ocular malformations, hypotonia and other skeletal abnormalities. Here we report a 2.5 years old patient with a cleft lip, club foot, mental retardation and cryptorchidism. Chromosomal analysis on the basis of G-banding technique was performed following patient referral to the cytogenetic laboratory. Chromosomal investigation appeared as 46, XY, r(18) (p11.32 q21.32). According to the clinical features of such patients, chromosome investigation is strongly recommended.
نوع مطالعه: Case Report |
موضوع مقاله:
Genetics & Disease
دریافت: 1393/5/30 | پذیرش: 1393/6/18 | انتشار: 1393/6/26
دریافت: 1393/5/30 | پذیرش: 1393/6/18 | انتشار: 1393/6/26
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