with significant improve in health-care and treatment of infectious diseases, genetic disorders have created a new era of notification. changes in social attitude towards family life and tendency of parents for limited number of children, sense of responsibility of parents for mental and physical healthiness of children along with their education, needed a new strategy. since most genetic disor...

Background: The secondary genetic changes other than the promyelocytic leukemia-retinoic acid receptor (PML-RARA) fusion gene may contribute to the acute promyelocytic leukemogenesis. Chromosomal alterations and mutation of FLT3 (FMS-like tyrosine kinase 3) tyrosine kinase receptor are the frequent genetic alterations in acute myeloid leukemia. However, the prognostic significance of FLT3 mutat...

Premature Ovarian Failure (POF) defined as functional stop of ovaries before the age of 40. It is a common cause of infertility in women that characterized by primary or secondary amenorrhea, high gonadotropin levels and estrogen level declining in patients. Factors that reduce follicle or defect in the follicle growth stimulating mechanism defined as numerous complication factors that they can...

background diaphragm of eventration is a defect of whole or a part of diaphragm muscle and replacing it with fibroplastic tissue. the incidence of eventration is uncertain. the article aims to report a newborn with congenital diaphragmatic eventration. case report the case is a dysmorphic male premature newborn which born at 33 gestational age. due to sever respiratory distress the patient admi...

background: the secondary genetic changes other than the promyelocytic leukemia-retinoic acid receptor (pml-rara) fusion gene may contribute to the acute promyelocytic leukemogenesis. chromosomal alterations and mutation of flt3 (fms-like tyrosine kinase 3) tyrosine kinase receptor are the frequent genetic alterations in acute myeloid leukemia. however, the prognostic significance of flt3 mutat...

At a Tertiary Genetic Centre, children with mental retardation (MR) (also referred as intellectual disability) and associated developmental disabilities were investigated for genetic diagnosis which is important in prevention and genetic counseling while offering the risk of recurrence to the family. A prospective and retrospective cytogenetic study was conducted on 1760 MR cases for chromosoma...

BACKGROUND Wilms Tumor (WT) can occur in association with tumor predisposition syndromes and/or with clinical malformations. These associations have not been fully characterized at a clinical and molecular genetic level. This study aims to describe clinical malformations, genetic abnormalities, and tumor predisposition syndromes in patients with WT and to propose guidelines regarding indication...