ABSTRACT
The purpose of this study was to determine the incidence of congenital and genetic anomalies in two major referral hospitals and medical Genetic center in a population of Ghazvin Province. A cross sectional study was performed between 2000- 2004 on 33380 children from infancy to age 8 years. The precise and confirmed diagnosis of genetic and congenital anomalies was elaborated by reviewing pedigree of family population screening, genetic records of family data, routine tests such as application of molecular and karyotype and other essential information have been approached. In total, the more frequent malformation associated congenital anomalies among our patients was inborn error of metabolism [7.18%] followed by disorder of congenital hearth defects [6%]. We suggest a possible role of various factors such as different geographical may influence dissimilarities between present study and other population. Also the necessity of particular attention and emphasize on special screening program that helps to identify early stages of genetic and congenital malformation. These results together provide information to physicians and genetic counselors to realize contribution of congenital abnormalities and setting priorities of screening individual cases
Subject(s)
Humans , Male , Female , Genetic Diseases, Inborn/epidemiology , Central Nervous System/abnormalities , Genitalia/abnormalities , Metabolism, Inborn Errors , Heart Defects, Congenital , Chromosome Aberrations , Neuromuscular Diseases , Hematologic Diseases , Cleft Lip , Cleft Palate , Sensation Disorders , Cross-Sectional Studies , ChildABSTRACT
A female child born to consanguineous parents was investigated for multiple congenital anomalies including microcephaly, short neck, high arched palate, ventricular septal defect [VSD],polydactyly and bilateral simian creases. She developed severe anaemia at 4-6 weeks. Her bone marrow biopsy was suggestive of acute lymphoblastic leukaemia. Karyotype analysis of her peripheral blood showed increased chromosomal breakages, hypo- and hyperdiploidy and fragility [fra X]. In addition to gaps, breaks exchanges, ring chromosome, translocations [dicentric, tricentric] and a characteristic nonrandom telomeric association of chromosomes [TAS] were also observed. Abnormalities of chromosomes 1, 3 and 9 were more frequent than other autosomes. The proband died at the age of 1 year and 5 months