the interpretation of supernumerary chromosome is important for genetic counseling and prognosis. here, we used snp array and conventional karyotyping method to identify a denovo marker chromosome originated from chromosome 22 and 11 in a newborn transferred to the neonatal intensive care unit of shahid sadoughi hospital in 2015.  clinical abnormalities identified in the newborn were dysmorphic...

Background: VACTERL association is usually a sporadic disorder, the possible etiologies of which have been proposed as familial as well as multiple genetic and environmental factors. VACTERL association usually consists of at least three of the core features of vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities. Vertebral anomali...

Prenatal diagnosis with application of the Amniotic fluid (Amniocentesis: AC) and chorionic villi sampling {CVS) is a general aspect of application in Human Genetics which facilitate the diagnosis of different Genetic defects, enclosing chromosomal abnormalities and Genosomopathies. Diagnosis of Genetic defects for AC and CVS is between 16-20th and 8-12th weeks of gestation respectively. Allica...

The article deals with anorectal malformation, which is a congenital anomaly in animals. This malformation often combined other birth defects and requires comprehensive diagnosis patients. Congenital malformations of the gastrointestinal tract are quite rare. Carrying out complex diagnostics before each stage surgical treatment will allow to determine certain method technique correction save pa...

patients and methods previously recorded data of 231 patients who underwent surgical closure of vsd between january 2009 and january 2012 at the rajaie cardiovascular medical and research center were retrospectively reviewed. vsd surgical repair was performed using continues suturing technique in group a patients (n = 163, 70.6%) and interrupted suturing technique in group b patients (n = 68, 2...