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Karyotype of patient for ring chromosomes 14
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Abstract
Background: Autism is a complex neuropsychiatric disorder that manifests in early childhood. Although the etiology is unknown yet but, new hypothesis focused on identifying the key genes related to autism may elucidate its etiology. The main objective of the present study was to verify the value of karyotyping in autistic children and iden...
Contexts in source publication
Context 1
... total of 50 patients were screened for chromo- some abnormalities by GTG banding technique at high resolution. Among the fifty clinically autistic children, only in one patient (boy 7 years old), was appeared with ring chromosome 14. The karyo- type of patient was 46, XY, r (14) (Fig. 1). But at age of 3-month-old he experienced a seizure and epileptic manifestation which was drug-resistant. The EEG test was abnormal and he had suscepti- bility to infections. According to his pedigree which is drawn by genetic counselor there was no consanguineous marriage and the age of his moth- er was 33 when he was born. The ...
Context 2
... he experienced a seizure and epileptic manifestation which was drug-resistant. The EEG test was abnormal and he had suscepti- bility to infections. According to his pedigree which is drawn by genetic counselor there was no consanguineous marriage and the age of his moth- er was 33 when he was born. The abnormal karyo- type represented in Fig. ...
Context 3
... goal of this study was to identify the role of chromosomal abnormalities in the etiology of ASDs and see that whether cytogenetic analysis including GTG-banding technique is useful to identifying autistic children or not, because inves- tigation on autistic children have been previously reported a remarkable variety of chromosomal aberrations which involving almost in all of the chromosomes (1). Chromosomal alterations which were observable by microscope have been reported in 3-5% of ASD cases (17, 18); the most frequent abnormali- ties are 15q11-q13 duplications, 2q37, and 22q11.2 and 22q13.3 deletions (19). ...
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Citations
... Venous blood lymphocytes were used because they serve as an excellent system for studying different types of genetic endpoints in many diseases including autism [14,15,[20][21][22][23][24]. Blood cells are distributed throughout the entire organism via the circulatory system, hence, genomic damage are not just the indicators of the state of the lymphocytes in the circulation, but can also be induced in any part of the organism. ...
... While most chromosomal abnormalities were inherited, these researchers found that only around 7 % of children with autism carry structural changes in the genome that are not found in their parents. Other investigations also found that the prevalence of chromosomal aberrations was small in autistic individuals, e.g., Tajeran et al. [22] observed only one ring chromosome 14 among 50 autistic children. We observed a clear elevation in the total level of chromosome aberration after irradiation in lymphocytes from both healthy and autistic subjects, and lymphocytes from autistic subjects were more susceptible to radiation-induced increases in the total chromosomal aberration frequency than lymphocytes from healthy subjects (Fig. 4). ...
Data regarding DNA repair perturbations in autism, which might increase the risk of malignancy, are scarce. To evaluate whether DNA repair may be disrupted in autistic children, we assessed the incidence of endogenous basal DNA strand breaks as well as the efficiency of repairing DNA damage caused by γ-ray in lymphocytes isolated from autistic and healthy children. The incidence of DNA damage and the kinetics of DNA repair were determined by comet assay, while the incidence of residual DNA damage was evaluated by structural chromosomal aberration analysis. Transcriptome profiling of 84 genes associated with DNA damage and repair-signaling pathways was performed by RT² Profiler PCR Array. The array data were confirmed by RT-PCR and western blot studies. Our data indicate that the incidence of basal oxidative DNA strand breaks in autistic children was greater than that in nonautistic controls. Lymphocytes from autistic children displayed higher susceptibility to damage by γ-irradiation and slower repair rate than those from nonautistic children. Although the total unstable chromosomal aberrations were unaffected, lymphocytes from autistic children were more susceptible to chromosomal damage caused by γ-ray than those from nonautistic children. Transcriptomic analysis revealed that several genes associated with repair were downregulated in lymphocytes from autistic individuals and in those exposed to γ-irradiation. This may explain the increased oxidative DNA damage and reduced repair rate in lymphocytes from autistic individuals. These features may be related to the possible correlation between autism and the elevated risk of cancer and may explain the role of the disruption of the DNA repair process in the pathogenesis of autism.
... Individuals with a ring chromosome 14 generally have seizures and show some forms of developmental delay [33]. A case of autism with epileptic manifestation was reported in Iran with a karyotype including a 1.5-Mb deletion in chromosome 14 as well as a ring chromosome 14 [34]. Another case of ring chromosome 14 also showed unusual phenotypic features including microcephaly, a micropenis, and a severe form of epilepsy [35]. ...
The aim of the present study was to determine the frequency and nature of chromosomal abnormalities involved in patients with the clinical spectrum of ambiguous genitalia (AG), amenorrhea, and Turner phenotype, in order to compare them with those reported elsewhere. The study was conducted in the Cytogenetic Department of Pasteur Institute of Morocco, and it reports on the patients who were recruited between 1996 and 2016. Cytogenetic analysis was performed according to the standard method. Among 1,415 patients, chromosomal abnormalities were identified in 7.13% (48/673) of patients with AG, 17.39% (28/161) of patients with primary amenorrhea (PA), 4% (1/25) of patients with secondary amenorrhea, and 23.20% (129/556) of patients with Turner phenotype. However, Turner syndrome was diagnosed in 0.89% (6/673) of patients with AG, 10.56% (17/161) of patients with PA, and 19.78% (110/556) of patients with Turner phenotype. In addition, Klinefelter syndrome and mixed gonadal dysgenesis were confirmed in 2.97% and 1.93% of patients, respectively, with AG, while, chimerism, trisomy 8, and trisomy 13 were confirmed only in 0.15% each. Trisomy 21 was confirmed in patients with AG and Turner phenotype (0.15% and 0.36%, respectively). Moreover, 5.60% (9/161) of patients with PA have been diagnosed as having sex reversal. Thus, the frequency of chromosomal abnormalities observed in Moroccan patients with PA is comparable to that reported in Tunisia, Turkey, Iran, and Hong Kong. However, the frequency is significantly less than that identified in India, Malaysia, Italy, and Romania.
... Individuals with a ring chromosome 14 generally have seizures and show some forms of developmental delay [33]. A case of autism with epileptic manifestation was reported in Iran with a karyotype including a 1.5-Mb deletion in chromosome 14 as well as a ring chromosome 14 [34]. Another case of ring chromosome 14 also showed unusual phenotypic features including microcephaly, a micropenis, and a severe form of epilepsy [35]. ...
Background:
Intellectual disability (ID) has been defined as a considerably reduced ability to understand new or complex information and to learn new skills. It is associated with life-long intellectual and adaptive functioning impairments that have a profound impact on individuals, families, and society. It affects about 3% of the general population. ID often comes out with other mental conditions like attention deficit, hyperactivity, and autism spectrum disorders (ASD), and it can be part of a malformation syndrome that affects other organs. It may be syndromic (S-ID) or non-syndromic (NS-ID).
Objective:
The aims of this study were to identify the profile of intellectually disable patients being referred for cytogenetic analysis in Morocco, to determine the prevalence of chromosomal abnormalities in a Moroccan group, and to compare the results with those of analogous studies from other countries.
Participants:
We included data from Moroccan patients with NS-ID and others with S-ID (mostly Down syndrome cases) who have been referred between 1996 and 2016. 1,626 patients were involved in this study, 1,200 were referred with a clinical diagnosis of Down syndrome, 37 were clinically diagnosed for ASD with ID, and 389 were suspected of NS-ID.
Results:
We identified 1,200 cases of Down syndrome. In 1,096 analyses (91.3%), a cytogenetic variant of trisomy 21 was identified: standard trisomy 21 in 1,037 cases (94.6%), a translocation in 34 cases (3.10%), and mosaicism in 25 cases (2.3%). The cytogenetic analysis among ASD with ID cases did not reveal any specific chromosomal abnormalities. The present study also shows that chromosomal abnormalities were present in 6.43% of the patients with NS-ID (25 abnormal karyotypes out of 389 NS-ID cases). Autosomal structural abnormalities were the largest proportion of chromosomal aberrations.
Conclusion:
The high rate of chromosomal abnormalities found in the Moroccan patients studied demonstrates the capital importance of cytogenetic evaluation in patients who show ID or any clinical development abnormality.
... Individuals with a ring chromosome 14 generally have seizures and show some forms of developmental delay [33]. A case of autism with epileptic manifestation was reported in Iran with a karyotype including a 1.5-Mb deletion in chromosome 14 as well as a ring chromosome 14 [34]. Another case of ring chromosome 14 also showed unusual phenotypic features including microcephaly, a micropenis, and a severe form of epilepsy [35]. ...
... Children with r(14) syndrome are usually good natured and only occasional bursts of aggressiveness have been reported [21]. Autistic traits, including stereotyped or repetitive motor movements, inflexible adherence to routines, hyper-or hypo-reactivity to sensory input, may be present [24]. In some individuals, the administration of the Autism Diagnostic Observation Schedule (ADOS) revealed a full autistic phenotype [25]. ...
Background
Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. ResultsThe aim of this work is to provide recommendations for the diagnosis and management of persons affected by ring chromosome 14 syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years subjects affected by ring chromosome 14 syndrome. The literature search was performed in 2016. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus. Conclusion
Conventional cytogenetics is the primary tool to identify a ring chromosome. Children with a terminal deletion of chromosome 14q ascertained by molecular karyotyping (CGH/SNP array) should be tested secondarily by conventional cytogenetics for the presence of a ring chromosome. Early diagnosis should be pursued in order to provide medical and social assistance by a multidisciplinary team. Clinical investigations, including neurophysiology for epilepsy, should be performed at the diagnosis and within the follow-up. Following the diagnosis, patients and relatives/caregivers should receive regular care for health and social issues. Epilepsy should be treated from the onset with anticonvulsive therapy. Likewise, feeding difficulties should be treated according to need. Nutritional assessment is recommended for all patients and nutritional support for malnourishment can include gastrostomy feeding in selected cases. Presence of autistic traits should be carefully evaluated. Many patients with ring chromosome 14 syndrome are nonverbal and thus maintaining their ability to communicate is always essential; every effort should be made to preserve their autonomy.
... The prevalence of chromosomal abnormalities was low in several studies including Tajeran et al. [19] who found that among fifty clinically autistic children, only one patient a 7 year old boy was with a ring chromosome 14 (4%). The karyotype of the patient was 46,xy,r (14). ...
Background: Autism is a neurodevelopmental disorder characterized by clinical, etiologic and genetic heterogeneity. Many surveys revealed cytogenetically visible chromosomal abnormalities in 7.4% of autistic patients documented as well as several submicroscopic variants. This study had been conducted to identify some aspects that might be involved in the pathogenesis of autism which is necessary for offering proper genetic counseling to families of autistic patients and their role in the prenatal diagnosis of autism.
Methods: This cross sectional study was conducted at the Child Psychiatry Clinic, Pediatric Hospital, Ain Shams University on 30 autistic patients who were subjected to the following tools: Confirmation of diagnosis using DSM-IV-TR criteria, IQ assessment using Stanford-Binet intelligence scale and assessment of severity of autistic symptoms using childhood autism rating scale (CARS). Full clinical examination, neurological examination, EEG, audiological assessment were also done. High resolution karyotyping was done for detection of numerical or structural chromosomal abnormalities as deletion, duplication, translocation of chromosomes.
Results: All the results of cytogenetic analysis were normal with no detectable numerical or structural chromosomal abnormalities. Males are affected more than females, only one case had history of drug intake (progestin), two cases had history of anti-D injection and two cases had history of diabetes mellitus during pregnancy. Four cases had history of respiratory distress and seven cases had history of jaundice. Two cases had history of generalized tonic clonic convulsion and four cases had history of EEG abnormalities. Fifteen cases of our autistic patients had mild mental retardation and six cases had moderate mental retardation.
Conclusion: Chromosomal abnormalities were not detected in the studied autistic children, and so the relation between the genetics and autism still needs further work up with different study methods and techniques.
Human ring chromosomes (RCs) are rare diseases with an estimated newborn incidence of 1/50,000 and an annual occurrence of 2,800 patients globally. Over the past 60 years, banding cytogenetics, fluorescence in situ hybridization (FISH), chromosome microarray analysis (CMA), and whole genome sequencing (WGS) have been used to detect a RC and further characterize its genomic alterations. Ring syndrome featuring sever growth retardation and variable intellectual disability has been considered as general clinical presentations for all RCs due to the cellular losses from the dynamic mosaicism of RC instability through mitosis. Cytogenomic heterogeneity ranging from simple complete RCs to complex rearranged RCs and variable RC intolerance with different relative frequencies have been observed. Clinical heterogeneity including chromosome specific deletion and duplication syndromes, gene related organ and tissue defects, cancer predisposition to different types of tumors, and reproductive failure has been reported in the literature. However, the patients of RCs reported in the literature accounted for less than 1% of its occurrence. Current diagnostic practice lacks laboratory standards for analyzing cellular behavior and genomic imbalances of RCs to evaluate the compound effects on patients. Under-representation of clinical cases and lack of comprehensive diagnostic analysis make it a challenge for evidence-based interpretation of clinico-cytogenomic correlations and recommendation of follow up clinical management. Given recent advancements in genomic technologies and organized efforts by international collaborations and patient advocacy organizations, the prospective of standardized cytogenomic diagnosis and evidence-based clinical management for all patients with RCs could be achieved at an unprecedented global scale.
