[صفحه اصلی ]   [Archive]  
:: صفحه اصلي :: درباره نشريه :: آخرين شماره :: تمام شماره‌ها :: جستجو :: ثبت نام :: ارسال مقاله :: تماس با ما ::
:: دوره 3، شماره 4 - ( 6-1393 ) ::
برگشت به فهرست نسخه ها
Ring Chromosome 18: A Case Report
:   (5527 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.
متن کامل [PDF 72 kb]   (2144 دریافت)    
نوع مطالعه: Case Report | موضوع مقاله: Genetics & Disease
دریافت: ۱۳۹۳/۵/۳۰ | پذیرش: ۱۳۹۳/۶/۱۸ | انتشار: ۱۳۹۳/۶/۲۶
ارسال نظر درباره این مقاله
نام کاربری یا پست الکترونیک شما:

CAPTCHA


XML   English Abstract   Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

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

Ring Chromosome 18: A Case Report. مجله بین المللی سلولی و مولکولی. 1393; 3 (4) :287-289

URL: http://ijmcmed.org/article-1-215-fa.html



دوره 3، شماره 4 - ( 6-1393 ) برگشت به فهرست نسخه ها
International Journal of Molecular and Cellular Medicine (IJMCM) International Journal of Molecular and Cellular Medicine (IJMCM)
Persian site map - English site map - Created in 0.06 seconds with 32 queries by YEKTAWEB 4030