نتایج جستجو برای: chromosomal anomalies
تعداد نتایج: 91765 فیلتر نتایج به سال:
Background Down syndrome is the most common chromosomal anomaly. Dysmorphic features can occur in several organs in this syndrome. Cardiac anomalies with a prevalence of 50% are the most common anomalies responsible for death during the first two years of life. We aimed to determine the prevalence of cardiac anomalies among Down syndrome patients admitted to two tertiary hospitals in Kermanshah...
It is well known that several chromosomal syndromes as well as chromosomal instability syndromes are cancer prone. A thorough cytogenetic study (in certain cancer prone syndrome) that may bring out any associated factors if any in the transformation of precancerous status to cancerous status making use of both chromosomal aberrations (CA) analysis and cytokinesis block micronucleus cytome assay...
Chromosome abnormalities have long been recognised as an important cause of learning disability and multiple malformation syndromes; 0.8% of live born infants have numerical or structural chromosomal anomalies resulting in an abnormal phenotype. The identification of such anomalies is important, both clinically and for accurate genetic counselling. Recently, the human genome sequence has enable...
introduction: the most common chromosomal abnormalities detected in perinatal period are aneuploidies of chromosome 21, 18, 13, x and y. the aim of this study is to assess referral reasons for invasive diagnostic method using rapid qf-pcr for fetal chromosomal abnormalities in gynecologists’ referrals. methods: a retrospective study of results was performed on data between september 2015 and ju...
Karyotypic Detection of Chromosomal Abnormalities in Referred Cases with Suspected Genetic Disorders
In the present study, a total of 150 individuals in different age group presenting clinical profile like genetically uncertain syndrome, multiple congenital anomalies, short stature, facial dysmorphism, abnormal behaviour, unclassified mental retardation and Down syndrome were referred to the Human Genetic Research cum Counselling centre, Jammu to rule out chromosomal abnormality. Chromosome st...
Fourteen patients suffering from various degrees of bone dysplasia and mental handicap with superimposed neuroses or psychotic episodes are reported. Known biochemical and chromosomal causes are noted. Mental states associated with syndromes and mental malfunctioning or impairment because of skeletal defects or other factors are briefly discussed. High IgE was noted in the three cases of bone d...
The determination of a baby’s sex begins at the chromosomal level with the insemination of the ovum. Further sexual differentiation follows during the subsequent embryogenesis. However, chromosomal anomalies, gene mutations, and other exogenous or endogenous factors can cause disorders of sexual differentiation. These disorders manifest during childhood or at the latest in puberty, making patie...
INTRODUCTION The prevalence of chronic hypertension is increasing in pregnant women. Beta-blockers are among the most prevalent anti-hypertensive agents used in early pregnancy. OBJECTIVE The objective of this study was to investigate whether first-trimester use of beta-blockers increases the risk of specific congenital anomalies in offspring. METHODS A population-based case-malformed contr...
OBJECTIVE This paper aimed to estimate the frequency of occurrence and the types of chromosomal abnormalities found in 141 infertile men with abnormal semen parameters. METHODS the frequency and type of chromosomal abnormalities were determined with male mitotic karyotype analysis from peripheral blood through chromosome banding techniques before assisted reproduction procedures. RESULTS In...
A congenital malformation (CM) is a congenital structural defect that often occurs in the first trimester. Although significant progress has been made in identifying the etiology of some birth defects, approximately 65% have no known or identifiable cause [1-3]. For 20-25% of anomalies there seems to be a "multifactorial" cause, involving a complex interaction of multiple minor genetic anomalie...
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