Introduction Cri du chat syndrome is a rare genetic disorder due to deletion of variable length of short arm of chromosome 5(5p). It mainly presents with typical cat like cry, facial dysmorphism, poor growth with feeding problems and severe cognitive, speech, and motor delays. Case Report We present here a one year old child who did not presented with typical features but presented with recurre...

this article shows that persian fragments are derived via a'-movement of the remnant plus tp deletion. evidence like case-matching, binding effects, and scope and bound pronouns show that persian fragments result from the application of deletion rule. but prior to this application, fragments are extracted out of the ellipsis site and moved to the left periphery of the sentence. evidence li...

Endometriosis is a debilitating disorder, defined as the presence of endometrial gland and stroma outside of the uterus. It may affect angiogenesis and vascular endothelial growth factor (VEGF) is one of the angiogenic factors that plays an important role in both physiological and pathological angiogenesis. The present study aimed to evaluate the association of VEGF -2549 insertion/deletion (I/...

     Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also...

The Mitochondrial DNA 4977-bp Deletion in Patients with Colorectal Cancer: a Case-control Study Iran

the myelodysplastic syndrome (mds) is a highly heterogenous disorder and karyotype analysis is helpful for diagnostic and prognostic estimation. deletion in long arm chromosome 6 (6q del) as a sole abnormality is a rare event in mds. this is the first case report of del (6q) as the only observed diagnostic change in iran. we also reviewed the literature of this cytogenetic lesion.

conclusions this finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with pku. introduction phenylketonuria (pku) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (pah) gene. most of the pah mutations are missense mutations (67%), which are followed by sma...

breast cancer (bc) is considered as one of the most important causes of death worldwide. previous studies showed that apolipoprotein b mrna- editing catalytic polypeptide-like 3 (apobec3) gene deletion significantly increased the risk of bc risk in chinese and european women. the present study aimed to assess the possible impact of apobec3 deletion and the risk of bc in a sample of iranian popu...

Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 ...