Abstract：
:GENETIC DISORDERS ARE TRADITIONALLY CATEGORIZED INTO THREE MAIN GROUPS: single-gene, chromosomal, and multifactorial disorders. Single gene or Mendelian disorders result from errors in DNA sequence of a gene and include autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XR), X-linked dominant and Y-linked (holandric) disorders. Chromosomal disorders are due to chromosomal aberrations including numerical and structural damages. Molecular and cytogenetic techniques have been applied to identify genetic mutations leading to diseases. Accurate diagnosis of diseases is essential for appropriate treatment of patients, genetic counseling and prevention strategies. Characteristic features of patterns of inheritance are briefly reviewed and a short description of chromosomal disorders is also presented. In addition, applications of cytogenetic and molecular techniques and different types of mutations are discussed for genetic diagnosis of the pediatric genetic diseases. The purpose is to make pediatricians familiar with the applications of cytogenetic and molecular techniques and tools used for genetic diagnosis.
journal_name
Iran J Pediatrjournal_title
Iranian journal of pediatricsauthors
Mahdieh N,Rabbani Bsubject
Has Abstractpub_date
2013-08-01 00:00:00pages
375-88issue
4eissn
2008-2142issn
2008-2150journal_volume
23pub_type
杂志文章,评审abstract：OBJECTIVE:Growth charts are widely used to assess children's growth status and can provide a trajectory of growth during early important months of life. Racial differences necessitate using local growth charts. This study aimed to provide standardized growth curves of body mass index (BMI) for children living in northe...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2011-03-01 00:00:00
abstract：OBJECTIVE:This study aims at providing local reference values for blood pressure by height and determining distribution pattern of systolic and diastolic blood pressure in 6.5-11.5 elementary school children for the first time in Shiraz (Southern Iran). METHODS:Height, systolic blood pressure (SBP) and diastolic blood...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2012-06-01 00:00:00
abstract：OBJECTIVE:The goal of this study was to evaluate the effect of protein energy malnutrition on protein glycosylation by investigating transferrin isoform pattern and its relationship to the degree of malnutrition and the biochemical markers of nutritional status in children. METHODS:Forty one children with mild (n=23) ...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2014-06-01 00:00:00
abstract：BACKGROUND:The most common reason of respiratory distress in the newborn is transient tachypnea of the newborn (TTN). There are some reports saying that TTN is associated with increased frequencies of wheezing attacks. OBJECTIVES:The aims of this study were to determine the risk factors associated with TTN and to dete...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：10.5812/ijp.2295
更新日期：2016-02-01 00:00:00
abstract：BACKGROUND:The Ehlers-Danlos syndrome type VI (EDSVI) is an autosomal recessive connective tissue disease which is characterized by severe hypotonia at birth, progressive kyphoscoliosis, skin hyperelasticity and fragility, joint hypermobility and (sub-)luxations, microcornea, rupture of arteries and the eye globe, and ...
journal_title：Iranian journal of pediatrics
pub_type：
doi：
更新日期：2010-09-01 00:00:00
abstract：OBJECTIVE:Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by reduced serum level of IgG, IgA or IgM and recurrent bacterial infections. Class switch recombination (CSR) as a critical process in immunoglobulin production is defective in a group of CVID patients. Activation-induced cytid...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2013-08-01 00:00:00
abstract：OBJECTIVE:The objective of this randomized controlled trial was to compare the treatment failure of suspected early onset neonatal sepsis with either 3-day or 5-day course of empirical antibiotic therapy. METHODS:Infants with birth weight over 1500 g and/or gestational age over 34 weeks within 7 days postnatal age wit...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2014-12-01 00:00:00
abstract：CONTEXT:Universal immunization against Bordetella pertussis has partially controlled the burden of the disease and its transmission. However, according to recent data, the epidemiology of this vaccine-preventable disease has changed. Now, younger infants, adolescents, and adults are at greater risk of infection. This a...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章,评审
doi：10.5812/ijp.5514
更新日期：2016-06-12 00:00:00
abstract：OBJECTIVE:Late-onset sepsis is responsible for high morbidity and mortality in newborn infants in the world and in particular in developing countries. In this study, we evaluated whether clinical characteristics, laboratory parameters and measurements of serum interleukin-8 (IL-8) are able to discriminate between late ...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2010-03-01 00:00:00
abstract：CONTEXT:To assess the efficacy of preoperative chemotherapy in Wilms' tumor patients and explore its true value for specific subgroups. OBJECTIVES:In the presence of these controversies, a meta-analysis that examines the efficacy of preoperative chemotherapy in Wilms' tumor patients and specific subgroups is needed to...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：10.5812/ijp.366
更新日期：2015-04-01 00:00:00
abstract：BACKGROUND:Diphallus is a rare anomaly and accompanying anomalies vary from bifid scrotum, bladder exstrophy, imperforate anus and colo-rectal anomaly such as duplication, and other associated anomalies. CASE PRESENTATION:A 2-day old infant is reported with imperforate anus and complete duplication of recto-sigmoid co...
journal_title：Iranian journal of pediatrics
pub_type：
doi：
更新日期：2010-06-01 00:00:00
abstract：OBJECTIVE:The aim of this study was to examine the differences in the health related quality of life and the self care and social function in daily life of children with different disabilities. METHODS:One hundred and two children with physical, emotional and cognitive disabilities (cerebral palsy, mental retardation,...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2013-06-01 00:00:00
abstract：OBJECTIVE:Beta thalassemia major is a prevalent hereditary disease in Mediterranean region especially Iran. Early blood transfusion is necessary for most of the patients and frequent transfusion can cause various medical problems for the patients. The aim of this study was to find major causes of hospital admission in ...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2011-12-01 00:00:00
abstract：BACKGROUND:Allgrove syndrome is a rare autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima and occasionally autonomic disturbances. Mutations in the AAAS gene, on chromosome 12q13 have been implicated as a cause of this disorder. CASE(S) PRESENTATION:We present various manifestati...
journal_title：Iranian journal of pediatrics
pub_type：
doi：
更新日期：2010-03-01 00:00:00
abstract：BACKGROUND:Hepatitis A virus (HAV) infection constitutes an important health problem in developing countries. It is usually a benign self-limiting disease, but may present with atypical clinical findings. CASE PRESENTATION:A twelve-year-old male with ascites, pleural effusion, and acalculous cholecystitis during the c...
journal_title：Iranian journal of pediatrics
pub_type：
doi：
更新日期：2010-12-01 00:00:00
abstract：OBJECTIVE:Injection of botulinum toxin into the anal sphincter is a novel and safe new treatment of chronic idiopathic constipation and anal fissure in children. The purpose of this study was to determine the utility of intra sphincteric injection of botox in the treatment of children with refractory constipation. MET...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2013-10-01 00:00:00
abstract：OBJECTIVES:Henoch-Schonlein Purpura (HSP) is the most widespread systemic vasculitis during childhood. Gastrointestinal tract retention and gastrointestinal bleeding are among its major complications. Neutrophil-Lymphocyte ratio (NLR) and platelet-lymphocyte ratio (PLR) are indicators related to inflammatory diseases. ...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：10.5812/ijp.8191
更新日期：2016-10-10 00:00:00
abstract：OBJECTIVE:Epilepsy is a most common serious neurological disorder and is one of the world's most prevalent non-communicable diseases. The aim of this study was to determine the prevalence and risk factors of epilepsy in 0-17 year old children in Trabzon, Turkey. METHODS:A cross-sectional epidemiological investigation ...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2012-09-01 00:00:00
abstract：OBJECTIVE:Acute bacterial meningitis in pediatrics remains a serious and potentially lethal disease. Its prognosis is critically dependent on rapid diagnosis and treatment. The use of biological markers, like procalcitonin, has been proposed to facilitate the accuracy of the initial diagnosis of bacterial meningitis. T...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2014-12-01 00:00:00
abstract：OBJECTIVE:To investigate T-cell immunoglobulin domain and mucin domain-containing molecule-3 (Tim-3) and its ligand galectin-9 mRNA expression in peripheral blood mononuclear cells (PBMCs) from Henoch-Schoenlein Purpura (HSP) patients. METHODS:Quantitative real-time reverse transcription-polymerase chain reaction (PCR...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2013-06-01 00:00:00
abstract：CONTEXT:Neonatal mortality rate is declining globally. The aim of the present study is to identify relevant indicators for assessing newborn care in hospitals by a systematic review. EVIDENCE ACQUISITION:A search on electronic data base and manual searches of personal files for studies on quality indicators of newborn...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章,评审
doi：10.5812/ijp.3706
更新日期：2015-10-01 00:00:00
abstract：BACKGROUND:Infantile Onset Pompe Disease (IOPD) is a rare autosomal recessive neuromuscular disorder. It is associated with cardiomegaly, hypotonia, paresis, and death in the first year of life. Since 2006, following the use of Alglucosidase alfa as Enzyme Replacement Therapy (ERT), the patients' survival is improved t...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：10.5812/ijp.4473
更新日期：2016-02-01 00:00:00
abstract：BACKGROUND:Burning fat and carbohydrates to provide energy in biological systems causes the formation of free oxygen species. OBJECTIVES:This study aimed to evaluate the oxidative status of serum and breast milk of mothers giving birth prematurely and at full-term. MATERIALS AND METHODS:The study comprised 50 mothers...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：10.5812/ijp.2363
更新日期：2015-08-01 00:00:00
abstract：:Congenital adrenal hyperplasia (CAH) is characterized by impaired biosynthesis of cortisol. 21-hydroxylase deficiency is the most common cause of CAH affecting 1 in 10000-15000 live births over the world. The frequency of the disorder is very high in Iran due to frequent consanguineous marriages. Although biochemical ...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2011-06-01 00:00:00
abstract：OBJECTIVE:Due to recent scientific progress in assisted reproductive techniques (ART), infertile couples can now become fertile. Thus, a number of infants in our country are the results of these costly interventions. This study has been undertaken to evaluate the physical growth process of different methods of ART infa...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2011-12-01 00:00:00
abstract：OBJECTIVE:Neonatal mortality is a major health problem in sub-Saharan Africa and the risk factors are not well established. The objective of this study was to determine the risk factors for neonatal mortality at the Yaounde Gynaeco-Obstetric and Pediatric Hospital. METHODS:We conducted a retrospective and analytic cas...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2014-08-01 00:00:00
abstract：OBJECTIVE:It is believed that fingerprints and palm patterns may represent genetically determined congenital abnormalities in Cystic Fibrosis (CF). The main idea of this paper was to determine differences of fingerprints and palm patterns in CF and normal children. METHODS:Forty-six CF children (27 males, 19 females) ...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2014-10-01 00:00:00
abstract：OBJECTIVE:Paucity of interlobular bile ducts (PIBD), defined as absence or marked decrease in the number of interlobular bile ducts, is one of the causes of neonatal cholestasis. Treatment includes treating the intractable pruritus caused by persistent cholestasis. PIBD can be part of a familial syndrome of cholestasis...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2013-02-01 00:00:00
abstract：OBJECTIVE:The aim of the study was the evaluation of patients treated with a diagnosis of gastroschisis and to establish the factors which affected the morbidity and mortality. METHODS:Twenty-nine patients, managed for gastroschisis during 2000-2010 were reviewed retrospectively. Patients were analysed in respect to g...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2012-09-01 00:00:00
abstract：OBJECTIVE:Although there are several echocardiographic criteria, there is not yet a general consensus about the diagnosis of left ventricular noncompaction. The current criteria are mostly based on the areas with maximal noncompaction in the heart. The echocardiographer may miss this maximal point leading to a misdiagn...
journal_title：Iranian journal of pediatrics
pub_type： 杂志文章
doi：
更新日期：2013-10-01 00:00:00
