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To analyze chromosomes in children with suspected genetic disorder and to categorize the chromosomal basis of genetic disorder.
Thirty children were selected from the patients attending genetic clinic, Department of Pediatrics, B.P. Koirala Institute of Health Sciences presenting with dysmorphic feature, mental retardation, short stature, congenita...
Contexts in source publication
Context 1
... of six suspected Turner syndrome children only two children were con¿ rmed as Turner syndrome (45, X) (Fig 2). Of these two children one (50%) had pure Turner syndrome (45, X) and another one (50%) had mosaic Turner syndrome (45, X/46, XX) (Table 1 & 2). So out of 30 children with suspected genetic disorder, chromosome abnormality was found in 33.24% children, which included 26.67% of children with Down syndrome and 6.67% of children with Turner syndrome (Table 1). ...Similar publications
Objective:
This study was conducted to investigate chromosomal abnormalities and their correlations with clinical and radiological findings in females with primary amenorrhea (PA).
Methods:
Detailed forms were recorded for 470 females, including the construction of three-generation pedigrees. Peripheral venous blood was drawn, with informed cons...
Chromosomal abnormalities are the main genetic risk factor associated with reproductive and sexual development disorders (DSD). The goal of this study is to retrospectively evaluate the frequency of chromosomal aberrations in Moroccan subjects with problems of procreation or sexual ambiguity. A total of 1005 individuals, including 170 infertile cou...
The aim of this study was (1) to identify the profile of patients being referred for cytogenetic analysis in Morocco, (2) to determine the prevalence and type of chromosomal abnormalities in the different groups, (3) to compare the results with those of similar studies done in other countries.
5572 patients ranging from newborns to 50 years of age...
ANTECEDENTES
El análisis citogenético del síndrome de Turner suele ser una línea monosómica X. Son raros los casos reportados con más de una línea celular y aún menos con aberraciones estructurales del cromosoma Y. No es común que se incluyan análisis dermatoglíficos.
CASO CLÍNICO
Paciente de 8 años de edad, que al examen físico no evidenció ningu...
Children with chromosomal disorders are at greater risk for cardiovascular comorbidities. Dyslipidemia and homocysteinemia have been identified to play a role in the pathogenesis of premature atherosclerosis. The current study aimed to explore the association of serum homocysteine level in children with numerical chromosomal disorders (Klinefelter...
Citations
... [59][60]. Many other exogenous factors such as maternal irradiation, alcohol, fertility drugs, low economic status etc. have been implicated in an increased non-disjunction rate [61][62][63]. Thus we can safely conclude that environmental factors are involved in the etiology of Down syndrome. ...
... These still remain a major cause of morbidity, mortality and handicap in Arab countries [2]. Genetic disorders can be caused by a mutation in one or multiple genes, by a combination of gene mutations and environmental factors or by damage to chromosomes [3]. The Egyptian population has a high frequency of genetic disorders. ...
ABSTRACT Background: Genetic disorders remain a major cause of morbidity, mortality and handicap in Egypt. This study aims to describe the morbidity pattern of all children with suspected genetic disorders referred to a genetic unit in Egypt. Methods: A retrospective hospital record-based descriptive study was carried out in the Genetic Unit of Mansoura University Children’s Hospital, Mansoura, Egypt during a period of 13 years from 2003 up to 2015. The following data was collected for 3197 referred cases: child age at referral, sex, residence and karyotyping results. Results: According to ICD-10 classification of congenital malformations the commonest diagnostic categories are congenital malformations, deformities and chromosomal abnormalities (79.7%) specially chromosomal malformations (73.5%) followed by endocrine, nutritional and metabolic diseases (8.6%), diseases of the nervous system (4.8%), mental and behavioral disorders (3.9%). Mucopolysaccharidosis is the most common type of endocrine, nutritional and metabolic diseases in referred cases. While mental retardation is the commonest mental and behavioral disorders; cerebral palsy and Duchenne muscular dystrophy were the commonest diseases of the nervous system. The commonest congenital malformations of the nervous system are microcephaly and congenital hydrocephalus. Achondroplasia and Osteogenesis imperfect are the most frequent congenital malformations of the musculoskeletal system. Down syndrome is the most common chromosomal abnormality (88.8%). Conclusions: Primary prevention is the most cost effective method for prevention of these disorders. Pre-natal detection of disease should be more available. Educational efforts are needed to increase genetic literacy of the general public and healthcare workers.
... The phenotypes of chromosomal disorders vary considerably. Therefore, the cytogenetic analysis of children with suspected genetic disorder is important to establish the proper diagnosis, to provide information about prognosis and recurrence of risk for future siblings [6]. In Egypt, there are many studies about the cytogenetic profile of Down syndrome, with a study in the Genetic Unit of Mansoura University Children's Hospital [7], but none about the whole spectrum of genetic dis-Contact Abdel-Hady El-Gilany ahgilany@gmail.com ...
... Previous studies in different countries reported different proportion of abnormal karyotypes among referred cases to genetic testing. Much lower proportions were reported in different countries, e.g., 22% in Sudan [10]; 27% in Morocco [11]; 33.3% in Nepal [6]; 29.3% and 28.6% in Brazil [1,12]; 32.2% in Turkey [13]; 50.6% in Sri Lanka [14]; and 28.3% in Oman [5]. A much lower proportion of 3.8% have been reported in the USA [15]. ...
... Down syndrome is the most common autosomal syndrome with non-disjunction as the most common type of Down syndrome. This agrees with previous studies [6,7,10,11,14,17]. This could be attributed to its easy clinical suspicion/diagnosis. ...
ABSTRACT
Background: Cytogenetic has become an indispensable tool for the diagnosis of genetic
disorders, paving the way for possible treatment and management. This study aims to
describe the cytogenetic profile of cases referred to a genetic unit in Egypt.
Methods: This is a retrospective record-based descriptive study carried out in the Genetic
Unit of Mansoura University Children’s Hospital, Mansoura, Egypt during a period of
13 years from 2003 up to 2015. The following data was abstracted from the files of
3,197 referred cases: child age at referral, sex, residence, and the results of karyotyping.
Results: Most of referred cases were from Dakahlia (60.9%). Males were more
encountered than females with ratio 1.1:1. The age of referral ranged from 1 day to
1,530 months with mean ± SD of 20.4 ± 5.1. Karyotyping was not done or unrecorded
in 27.8% of cases. Normal Karyotyping 46XY and 46XX was recorded in 8.5% and 6.9%,
respectively. Chromosomal abnormalities were found in 56.8%. The most common
autosomal abnormalities were Down syndrome non-disjunction (47, XY +21–47, XX
+21) 30.2% and 17.2%, respectively. Classical type of Turner syndrome (45, X) was the
commonest sex chromosomal abnormalities (1.8%). Numerical abnormalities were the
most frequent (53.2%). Down syndrome accounted for 48.5% (for non-disjunction and
mosaicism) and 3.5% (for translocation) of chromosomal abnormalities.
Conclusions: Karyotyping should be done for all cases with suspected genetic disorders.
It provides the bases for clinical management and genetic counseling of parents.
... In Nepal, Wilson's disease, an inborn error of copper metabolism has been documented twice as case reports. 6,7 Although studies have been conducted on the incidence of chromosomal disorders, 8 inborn errors of metabolism, probably because of their rarity, have not caught attention. ...
... One in approximately 130 screened Nepalese were found to be thalassemia trait carriers. In a 2009 study done at BPKIHS genetic clinic, 8 10 of 30 children with mental retardation, dysmorphic features, short stature and ambiguous genitalia, were found to have chromosomal disorders. The study concluded that in the remaining 20 children, either the aberrations were undetectable by the available technology, or could have been the result of other single gene disorders. ...
Inborn errors of metabolism or metabolic diseases, are a group of genetically determined metabolic disorders that result in mental retardation or early death. The prevalence of IEM in various countries shows a prevalence varying between 1 in 800 to 1 in 5000. As the technology for detecting metabolites has become more advanced, studies utilizing more modern methods report a higher prevalence. There have been reports of a few Inborn errors of metabolisms in Nepal, but studies to gauge the prevalence of these disorders in the Nepalese population are lacking. With conflicting statistical numbers from different sources regarding mental retardation cases in Nepalese population and a substantial rate of consanguinity and inter caste marriages, it would be prudent to initiate some pilot studies to estimate the prevalence of a group of disorders that can be diagnosed through simple laboratory tests, to be followed by a screening programme depending upon the results. The presented review discusses the need for and the possibilities of screening for these errors for early intervention in Nepal.
