• Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. (nih.gov)
  • Advances in molecular diagnostics have revealed that Bartter syndrome results from mutations in numerous genes that affect the function of ion channels and transporters that normally mediate transepithelial salt reabsorption in the distal nephron segments (see the image below). (medscape.com)
  • this condition takes the form of either classic Bartter syndrome (caused by mutations in the CLCNKB gene) or Gitelman syndrome (caused by mutations in the NCCT gene). (medscape.com)
  • [ 9 ] In a French cohort, MAGED2 mutations accounted for 9% of antenatal Bartter syndrome and 38% of patients without other characterized mutations. (medscape.com)
  • Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)
  • However, treatment developed using these new technologies may only be effective for specific genetic mutations eg. (acnr.co.uk)
  • Mutations in the CREBBP gene cause about half of cases of Rubinstein-Taybi syndrome. (medlineplus.gov)
  • Researchers have not determined how CREBBP gene mutations lead to other signs and symptoms of Rubinstein-Taybi syndrome. (medlineplus.gov)
  • Mutations in the EP300 gene cause a small percentage of cases of Rubinstein-Taybi syndrome. (medlineplus.gov)
  • EP300 gene mutations result in the loss of one functional copy of the gene in each cell, which interferes with normal development and causes the typical features of Rubinstein-Taybi syndrome. (medlineplus.gov)
  • Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. (medlineplus.gov)
  • To identify mutations in COL2A1 and COL11A1 genes and to examine the genotype-phenotype correlation in a cohort of Chinese patients with Stickler syndrome. (molvis.org)
  • In this study, three novel and two known mutations in the COL2A1 gene were identified in six of 16 Chinese patients with Stickler syndrome. (molvis.org)
  • Analysis of the genotype-phenotype correlation showed that the early onset of high myopia with vitreous abnormalities may serve as a key indicator of Stickler syndrome, while the existence of mandibular protrusion in pediatric patients may be an efficient indicator for the absence of mutations in COL2A1 and COL11A1 . (molvis.org)
  • It is estimated that these two genes are responsible for more than 95% of the mutations in patients with Stickler syndrome ( HGMD , last updated in March 2015). (molvis.org)
  • Advances in sequencing technologies may allow for more efficient diagnosis of disease by combining analyses of phenotypes and gene mutations. (molvis.org)
  • Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. (cancerindex.org)
  • In the last few years, different clinical reports have suggested that mutations or deletions of the HMGA2 gene can be responsible for a SRS-like phenotype in patients with negative results of the common diagnostic tests for this syndrome. (biomedcentral.com)
  • There is strong evidence that inherited genetic factors (mutations plus single nucleotide polymorphisms) can play a major role in breast cancer susceptibility [ 1 ]. (hindawi.com)
  • Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
  • Finally, it seems appropriate to consider the "sodium channel syndrome" (mutations in the gene of the α subunit of the sodium channel, SCN5A gene) as a single clinical entity that may manifest in a wide range of phenotypes, to thus have a better insight on these cardiac syndromes and potential outcomes for their clinical treatment. (bvsalud.org)
  • Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene. (lu.se)
  • The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. (lu.se)
  • Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene. (lu.se)
  • Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations. (lu.se)
  • Identification of novel mutations in patients with Shwachman-Diamond syndrome. (lu.se)
  • Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS. (lu.se)
  • Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. (lu.se)
  • Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome. (lu.se)
  • Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. (lu.se)
  • Mutations in SBDS are associated with Shwachman-Diamond syndrome. (lu.se)
  • The lack of a confirmed genetic mutation does not preclude the diagnosis of CAPS because 40% of patients who have neonatal-onset multisystem autoinflammatory disease, 25% who have Muckle-Wells syndrome, and 10% of who have familial cold autoinflammatory syndrome do not have identifiable mutations based on standard genetic testing. (msdmanuals.com)
  • Antimicrobial resistance occurs through different mechanisms, which include spontaneous (natural) genetic mutations and horizontal transfer of resistant genes through deoxyribonucleic acid (DNA). (who.int)
  • In 188 probands with the clinical diagnosis of Stickler syndrome, the COL2A1 gene was analyzed by either a mutation scanning technique or bidirectional fluorescent DNA sequencing. (nih.gov)
  • Once a SLC6A3 pathogenic variant is identified within an affected family member, carrier testing for at-risk relatives and prenatal testing or preimplantation genetic diagnosis for pregnancies can be options considered for genetic counseling. (wikipedia.org)
  • Diagnosis of SLC6A3-negative DTDS is established in a proband via molecular genetic testing, looking for biallelic (i.e. homozygous or compound heterozygous) pathogenic SLC6A3 variants. (wikipedia.org)
  • In contrast to providing a psychiatric diagnosis, a behavioral phenotype describes what is unique to the behavior associated with specific syndromes. (chargesyndrome.org)
  • A clinical practice guideline for the diagnosis and management of gastrointestinal hamartomatous polyposis syndromes has just been published by the U.S. Multi-Society Task Force on Colorectal Cancer, which is comprised of experts representing the American College of Gastroenterology, the American Gastroenterological Association, and the American Society for Gastrointestinal Endoscopy. (medscape.com)
  • Although several genetic mechanisms that cause the syndrome are known, more than 40% of patients with a SRS-like phenotype remain without an etiological diagnosis. (biomedcentral.com)
  • We present a 3-year-old male patient with clinical diagnosis of Silver-Russell Syndrome (SRS) associated with a de novo heterozygous deletion of the long arm of the chromosome 12 (12q14.3) encompassing the HMGA2 gene. (biomedcentral.com)
  • Fragile X cases have more than 200 repeats of the trinucleotide CGG at a fragile locus of the X chromosome (Xq27.3) which affords the basis of the molecular diagnosis of the syndrome. (omicsonline.org)
  • After examining the child, I decided to do some investigations that settled my provisional diagnosis of Fragile X syndrome with Autism Spectrum Disorder (ASD). (omicsonline.org)
  • Background: Polycystic ovary syndrome (PCOS) is a heterogeneous disorder because of the variable criteria used for diagnosis. (harvard.edu)
  • The diagnostic utility of exome sequencing has consistently been 20%-30% (i.e., a diagnosis is identified in 20%-30% of individuals who were previously undiagnosed but had features suggestive of a genetic condition) [ Gahl et al 2012 , Lazaridis et al 2016 ]. (nih.gov)
  • A cohort of autosomal dominant tubulointerstitial kidney disease (ADTKD) families found that 29 of 45 achieved a genetic diagnosis through the genes known to be associated with the condition, although 9 of the 45 had diagnostic variants in genes not usually associated with ADTKD. (ajmc.com)
  • Broadened gene panels for complex phenotypes will be needed, as targeted gene panels fail to identify a genetic diagnosis in up to 20% of instances. (ajmc.com)
  • Genetic testing should be mandatory allowing early diagnosis and therapy of AS. (uni-koeln.de)
  • TBX5 genotyping has high sensitivity and specificity for Holt-Oram syndrome (HOS) if stringent diagnostic criteria are used in assigning the clinical diagnosis. (medscape.com)
  • The syndrome diagnosis is clinical based on physical and behavioral data which can be confirmed by the analysis of chromosome 15 segment (q11-q13) through methylation or in situ hybridization 10 . (bvsalud.org)
  • Background: Long QT syndrome (LQTS) genetic test reports commonly exclude potentially proarrhythmic common variants such as p.Asp85Asn-KCNE1. (elsevierpure.com)
  • Objective: The purpose of this study was to determine whether a discernible phenotype is associated with p.Asp85Asn-KCNE1 and whether relatively common KCNE1 variants underlie transient QT prolongation pedigrees with negative commercial LQTS genetic tests. (elsevierpure.com)
  • Methods: Retrospective review was used to compare demographics, symptomatology, and QT parameters of individuals with p.Asp85Asn-KCNE1 in the absence of other rare/ultra-rare variants in LQTS-susceptibility genes and those who underwent comprehensive LQTS genetic testing. (elsevierpure.com)
  • Conclusion: We provide further evidence that relatively common variants in KCNE1 may result in a mild QT phenotype designated as "LQT5-Lite" to distinguish such potentially proarrhythmic common variants (ie, functional risk alleles) from rare pathogenic variants that truly confer monogenic disease susceptibility, albeit with incomplete penetrance. (elsevierpure.com)
  • We performed a genome-wide association study (GWAS) and exome-sequencing analysis to identify common and rare genetic variants associated with plasma myeloperoxidase (MPO)-DNA complex levels, a biomarker for NETs, in the population-based Rotterdam Study cohort. (frontiersin.org)
  • Genome-wide association studies (GWAS) and exome-sequencing analysis have been successfully implemented as approaches to identify genetic variants associated with disease susceptibility. (frontiersin.org)
  • The assessment of genetic variants in association with NETs might help to elucidate potential molecular mechanisms intervening in their formation and their downstream effect on other pathways. (frontiersin.org)
  • Here, we are the first to apply these approaches to ascertain common and rare genetic variants associated with NETs using data from a population-based cohort study. (frontiersin.org)
  • KBG syndrome is a rare neurodevelopmental disorder caused by heterozygous variants in the ANKRD11 gene and is one of the most prevalent genetic syndromes. (bmj.com)
  • Many inherited disorders and phenotypes are genetically heterogeneous - that is, pathogenic variants in more than one gene can cause one phenotype (e.g., dilated cardiomyopathy, ataxia, hereditary hearing loss and deafness) or one genetic disorder (e.g. (nih.gov)
  • Pathogenic variants in mtDNA causing a Gitelman-like syndrome brings together understanding and the identification of biallelic variants. (ajmc.com)
  • The identification of biallelic variants that are related to hypokalemic syndrome can fortify tubular potassium channel understanding and further link to extrarenal phenotypes. (ajmc.com)
  • Genetic variants were interpreted according to current guidelines and criteria. (uni-koeln.de)
  • Bartter syndrome has traditionally been classified into 3 main clinical variants: neonatal (or antenatal) Bartter syndrome, classic Bartter syndrome, and Gitelman syndrome. (medscape.com)
  • Screening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate. (cdc.gov)
  • The aim of our study was to define more precisely the phenotype and genotype of Stickler syndrome type 1 by investigating a large series of patients with a heterozygous mutation in COL2A1. (nih.gov)
  • In addition, a mutation in the basolateral calcium sensing receptor has been identified as causing milder symptoms of classic Bartter syndrome. (medscape.com)
  • Nearly 30 to 40 percent of people with Rubinstein-Taybi syndrome do not have an identified mutation in the CREBBP or EP300 gene or a chromosome 16 deletion. (medlineplus.gov)
  • This is the first study in a cohort of Chinese patients with Stickler syndrome, and the results expand the mutation spectrum of the COL2A1 gene. (molvis.org)
  • Recent research has classified lung adenocarcinoma patients with KRAS mutation into three subtypes by co-occurring genetic events in TP53 (KP subgroup), STK11/LKB1 (KL subgroup) and CDKN2A/B inactivation plus TTF-1 low expression (KC subgroup). (cancerindex.org)
  • The contributions of any single genetic variation or mutation in a population depend on its frequency and penetrance as well as tissue-specific functionality. (hindawi.com)
  • Bartter and Gitelman syndromes are renal tubular salt-wasting disorders in which the kidneys cannot reabsorb chloride in the TALH or the DCT, depending on the mutation. (medscape.com)
  • A novel mutation in a Fijian boy with Shwachman-Diamond syndrome. (lu.se)
  • Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome. (lu.se)
  • With the existence of large, well-characterized sample sets and the explosion of high-throughput methods in genetics there are numerous new genetic and genomic disorders that are being identified in autism. (biomedcentral.com)
  • American Journal of Medical Genetics Special Series of Articles on Behavior in CHARGE Syndrome - A symposium focusing on behaviors in CHARGE syndrome was held at the 6th International CHARGE Syndrome Conference in 2003. (chargesyndrome.org)
  • According to the locus heterogeneity and differences in the vitreous phenotype, Stickler syndrome is primarily classified into six subtypes. (molvis.org)
  • These are designed by a laboratory to include genes commonly associated with a broad phenotype (e.g., cardiomyopathy, ataxia, intellectual disability) or a recognizable syndrome with genetic heterogeneity (e.g. (nih.gov)
  • A cardiomelic developmental field has also been postulated to relate the genetic heterogeneity of HOS (and other similar syndromes) to a cascade of molecules, including the brachyury, sonic hedgehog, bone morphogenetic protein, retinoic acid receptor, and transforming growth factor beta families. (medscape.com)
  • The candidate region of genes on chromosome 21 affecting cerebellar development in DS is therefore delimited to the subset of genes whose orthologs are at dosage imbalance in Ts65Dn mice, providing the first localization of genes affecting a neuroanatomical phenotype in DS. (johnshopkins.edu)
  • Researchers believe that the loss of multiple genes in this region probably accounts for the serious complications associated with severe Rubinstein-Taybi syndrome. (medlineplus.gov)
  • COL2A1 and COL11A1 are common candidate genes for Stickler syndrome, and both are related to the form of Stickler syndrome with an obvious ocular phenotype. (molvis.org)
  • If so, those genes known to be associated with specific cancer or syndrome predisposition are analysed by a state-of-the-art technology known as next-generation sequencing (NGS). (bmj.com)
  • We aimed to understand the genetic causes of sarcomas by analyzing a group of genes in 177 Brazilian children, adolescents, and young adults with sarcomas. (bmj.com)
  • OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. (nih.gov)
  • The first area that genomic testing can be valuable in CKD care is in the understanding of which genes are associated with CKD or its phenotypes. (ajmc.com)
  • There are some challenges to whether the genetic variation in these genes relates to heritable phenotypes. (ajmc.com)
  • Additionally, Prader-Willi and Angelman syndromes are the main recognized human diseases determined by mechanisms of genomic imprinting, that is, a genetic phenomenon in which certain genes are expressed by only one allele 7 . (bvsalud.org)
  • The inability to analyze gene expression in living neurons from Angelman (AS) and Duplication 15q (Dup15q) syndrome subjects has limited our understanding of these disorders at the molecular level. (biomedcentral.com)
  • Conclusions: These findings are consistent with known ARVCF gene effects on neurodevelopment in terms of cellular arrangement, migration, and intracellular signaling involving the striatum and may involve interactions with other brain networks such as prefrontal cortex, and they underscore the importance of imaging-genetic studies to elucidate the genetic influences underlying intermediate phenotypes in complex neurobehavioral disorders. (psychiatrist.com)
  • Gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with intestinal and extraintestinal tumors. (medscape.com)
  • Among all the hamartomatous polyp disorders, Peutz-Jeghers syndrome is most understood, according to the investigators. (medscape.com)
  • Some studies have suggested a role for this protein in maintaining centriole-nucleated sensory organelles termed primary cilia, and AS is now considered to belong to the growing class of human genetic disorders linked to ciliary dysfunction (ciliopathies). (springer.com)
  • Diagnosable phenocopy disorders could also be more common in genetic diagnosing. (ajmc.com)
  • Physicians, genetic counselors, therapists and other healthcare professionals, register now to help us learn more about rare chromosome disorders: the associated symptoms, new research and evolving treatments. (chromodisorder.org)
  • Bartter syndrome, originally described by Bartter and colleagues in 1962, represents a set of closely related, autosomal recessive renal tubular disorders characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure. (medscape.com)
  • Bernard-Soulier syndrome (BSS) is one of a group of hereditary platelet disorders characterized by thrombocytopenia, giant platelets, and a tendency toward bleeding. (medscape.com)
  • Other disorders in this category are the May-Hegglin anomaly and gray platelet syndrome. (medscape.com)
  • abstract = "Down syndrome (DS) is the most common genetic cause of mental retardation and affects many aspects of brain development. (johnshopkins.edu)
  • Stickler syndrome (OMIM 108300 , 604841 , 184840 ) is a common hereditary connective tissue disorder of fibrillar collagen. (molvis.org)
  • Patients with suspicion of hereditary cancer are referred to cancer genetic counselling units, where they are assessed for genetic testing suitability. (bmj.com)
  • Genetic loci implicated in hereditary, familial, and sporadic breast cancer susceptibility. (hindawi.com)
  • Hereditary cryopyrin-associated periodic syndromes (CAPS) represent a spectrum of progressively severe disease. (msdmanuals.com)
  • Whole exome sequencing of 2 commercially genotype-negative pedigrees revealed that p.Asp85Asn-KCNE1 and p.Arg36His-KCNE1 traced with a transient QT prolongation phenotype. (elsevierpure.com)
  • Referenced article focusing on the relationship between phenotype and genotype. (cancerindex.org)
  • Genotype-phenotype correlations propose that the location and character of the individual's variant correlate with the renal outcome and any extra renal manifestations. (uni-koeln.de)
  • Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship. (lu.se)
  • Silver-Russell Syndrome (SRS) is a distinct syndromic growth disorder in which prenatal and postnatal growth failure are associated with other characteristic features, including relative macrocephaly at birth, protruding forehead in early life, body asymmetry and substantial feeding difficulties. (biomedcentral.com)
  • Evidence for biallelic pathogenic LAMA5 has emerged to suggest there is a causative relationship in various glomerular phenotypes, including nonsyndromic nephrotic syndromes and syndromic complex kidney phenotypes. (ajmc.com)
  • Nevertheless, the heterogeneous clinical phenotype may present a challenge, particularly for patients with only ocular phenotypes. (molvis.org)
  • Nevus comedonicus syndrome has ocular, skeletal, and central nervous system anomalies. (medscape.com)
  • This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia). (nih.gov)
  • When Do Symptoms of Night blindness-skeletal anomalies-dysmorphism syndrome Begin? (nih.gov)
  • Human genetic and genomic studies have supported a strong causal role of SHANK3 deficiency in autism spectrum disorder (ASD). (biomedcentral.com)
  • Defective development of the embryonic radial ray (eg, aplasia, hypoplasia, fusion, other anomalous development) results in a wide spectrum of phenotypes, including triphalangeal or absent thumbs, foreshortened arms, and phocomelia. (medscape.com)
  • The broad spectrum of clinical phenotypes that the syndrome encompasses was previously divided into distinct syndromes (for example DiGeorge syndrome, velocardiofacial syndrome, cardiofacial syndrome) but are now known to be identical and are referred to as 22q11.2 deletion sydrome. (cdc.gov)
  • This article is a brief introduction to the study of CMT and correlates the most common different genotypes and phenotypes. (medscape.com)
  • Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. (amrita.edu)
  • This review aims to provide an assessment of the nature and extent of complement involvement in TMA associated with autoimmune diseases such as systemic lupus erythematosus, antiphospholipid syndrome, and scleroderma renal crisis. (jrheum.org)
  • Early initiation of therapy in patients with Alport syndrome (AS) slows down renal failure by many years. (uni-koeln.de)
  • Replication of the ACS-like phenotype in nonsickle mice revealed that the mechanism of lung injury due to extracellular hemin is independent of SCD. (jci.org)
  • Fragile X syndrome is a genetic disorder that affects both males and females but males are more severely affected than females. (omicsonline.org)
  • Although there is no current curative treatment of Fragile X syndrome, there are many available therapeutic modalities that can be used to control its manifestations and improve the quality of life of its sufferers. (omicsonline.org)
  • Fragile X syndrome is a genetic disorder that affects both males and females but males are more severely affected compared to females. (omicsonline.org)
  • Now a large and ever increasing number of genetic subtypes has been described, and major advances in molecular and cellular biology have clarified the understanding of the role of different proteins in the physiology of peripheral nerve conduction in health and in disease. (medscape.com)
  • This disease is caused by a change in the genetic material (DNA). (nih.gov)
  • 7 - 9 A TMA is called "primary" when a genetic or acquired defect in a complement protein is identified (as in atypical hemolytic uremic syndrome [aHUS]) or "secondary" when occurring in the context of another disease process or factor such as infection, autoimmune disease, malignancy, or drugs. (jrheum.org)
  • Our report confirms the etiological role of HMGA2 as a disease gene in the development of a SRS-like phenotype. (biomedcentral.com)
  • The prevention and treatment of acute chest syndrome (ACS) is a major clinical concern in sickle cell disease (SCD). (jci.org)
  • Phenotypes are the foundation for clinical and genetic studies of disease risk and outcomes. (harvard.edu)
  • Introduction: Prader-Willi syndrome (PWS) is a neurobehavioral genetic disease whose cause is failure on chromosome 15. (bvsalud.org)
  • Prader-Willi syndrome (PWS), described by Prader, Labhart and Willi in 1956, is considered a neurobehavioral disease currently indicated as one of the most frequent cause of chromosome microdeletions 9 . (bvsalud.org)
  • they include familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and neonatal-onset multisystem autoinflammatory disease. (msdmanuals.com)
  • The disease has a variable clinical phenotype that ranges from mild to severe. (cdc.gov)
  • We report the clinical and genetic characteristics of a patient with SRS phenotype and a de novo 425 Kb microdeletion of 12q14.3 region encompassing the HMGA2 gene but not the LEMD3 gene. (biomedcentral.com)
  • De novo heterozygous variant discovery can bring hypokalemic and hypomagnesemic kidney syndromes with dilated cardiomyopathy together. (ajmc.com)
  • Objective: There are notable similarities between velocardiofacial syndrome and schizophrenia in terms of neurocognitive deficits and brain structural abnormalities. (psychiatrist.com)
  • These similarities have supported the role of the armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF) as a susceptibility gene in schizophrenia. (psychiatrist.com)
  • This is especially true of patients who may be at high risk for additional complications, e.g. those with metabolic syndrome, diabetes, or cardiac, cerebrovascular or other neurological diseases. (ersjournals.com)
  • Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, speech and motor impairments, epilepsy, abnormal sleep, and phenotypic overlap with autism. (biomedcentral.com)
  • Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. (biomedcentral.com)
  • Most recently, an international team of researchers has identified an X-linked disorder characterized by polyhydramnios with prematurity and a severe but transient form of antenatal Bartter syndrome. (medscape.com)
  • Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction and normal head circumference with consequent relative macrocephaly. (biomedcentral.com)
  • Bernard-Soulier syndrome (BSS) was first described in 1948 as a congenital bleeding disorder characterized by thrombocytopenia and large platelets. (medscape.com)
  • Alström syndrome (AS) is characterised by metabolic deficits, retinal dystrophy, sensorineural hearing loss, dilated cardiomyopathy and multi-organ fibrosis. (springer.com)
  • Although all gastrointestinal hamartomatous polyposis syndromes are caused by germline alterations, Boland and colleagues pointed out that diagnoses are typically made based on clinical criteria, with germline results serving as confirmatory evidence. (medscape.com)
  • Shwachman-Diamond syndrome is associated with structural brain alterations on MRI. (lu.se)
  • Some researchers suggest that these cases are a separate condition called chromosome 16p13.3 deletion syndrome. (medlineplus.gov)
  • Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. (medlineplus.gov)
  • Clinical Features in a Large Cohort of Patients With 22q11.2 Deletion Syndrome. (cdc.gov)
  • In most cases, the syndrome is due to a 3 million base pair (Mb) deletion on the chromosomal region 22q11.2 that is flanked by low copy number repeats. (cdc.gov)
  • In-depth clinical and genetic data of 60/62 children who participated in the EARLY PRO-TECT Alport trial were analyzed. (uni-koeln.de)
  • While having only limited power according to its sample size, an obvious strength is the precise clinical and genetic data of this well ascertained cohort. (uni-koeln.de)
  • Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan. (lu.se)
  • The genetic determinants of hair texture in humans are largely unknown. (nature.com)
  • Antimicrobial drugs (van- distress syndrome (ARDS) in humans. (cdc.gov)
  • Oral appliances, or mandibular advancement devices (MADs), can be an effective alternative for mild and medium-to-moderate OSA syndrome (OSAS), but they require strict monitoring because of differences in individual response to this therapy. (medscape.com)
  • The authors suggest that even mild microcephaly in association with facial dysmorphism and digital abnormalities like hypoplastic thumbs, brachymesophalangy and clinodactyly of the 5th fingers are sufficient to suspect Feingold syndrome. (chromodisorder.org)
  • Rare genetic and genomic syndromes have provided insights into the molecular, cellular and circuit changes that underlie autism and associated developmental delay syndromes. (biomedcentral.com)
  • Genome wide association studies, fluorescence in situ hybridization, comparative genomic hybridization, and candidate gene studies have enumerated genetic contributors to cancers in women. (hindawi.com)
  • When Do Symptoms of Agnathia-holoprosencephaly-situs inversus syndrome Begin? (nih.gov)
  • The goal of surveillance in juvenile polyposis syndrome is to mitigate symptoms related to the disorder and decrease the risk of complications from the manifestations, including cancer," Boland and colleagues wrote. (medscape.com)
  • A subset of these patients has concurrent symptoms of excessive daytime sleepiness attributable to their nocturnal breathing disorder and is classified as having obstructive sleep apnoea/hypopnoea syndrome (4-5% of the middle-aged population). (ersjournals.com)
  • However, a few studies indicate that some people with large deletions in the same region of chromosome 16 have characteristic features of Rubinstein-Taybi syndrome rather than a more severe condition. (medlineplus.gov)
  • In moderate-to-severe obstructive sleep apnoea/hypopnoea syndrome, treatment with continuous positive airway pressure has been shown to be effective. (ersjournals.com)
  • The Ts65Dn mouse is segmentally trisomic for the distal 12-15 Mb of mouse chromosome 16, a region that shows perfect conserved linkage with human chromosome 21, and therefore provides a genetic model for DS. (johnshopkins.edu)
  • Figure 1: Phenotype and fine mapping of ARWH on chromosome 13q14.2-14.3. (nature.com)
  • of genetic material from the short (p) arm of chromosome 16 . (medlineplus.gov)
  • Down syndrome (DS) is caused by trisomy of human chromosome 21 (Hsa21) 1 1 Lana-Elola E, Watson-Scales SD, Fisher EM, Tybulewicz VL. (scielo.br)
  • 5 m/s) velocities observed in Dejerine-Sottas syndrome (DSS) and congenital hypomyelination neuropathy (CHN). (medscape.com)
  • Solomon defines epidermal nevus syndrome as a sporadic neurocutaneous linkage of congenital ectodermal defects in the skin, brain, eyes, and/or skeleton. (medscape.com)
  • Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review. (cdc.gov)
  • On the basis of binary regression analysis, we developed a scoring system that may be useful when evaluating patients with Stickler syndrome. (nih.gov)
  • DTDS-positive patients are further identified by matching their genetic testing results with known characteristic clinical, laboratory, and imaging findings. (wikipedia.org)
  • For this task, 30 teenagers and young adults were evaluated, 15 Down syndrome patients and 15 typically developed controls. (scielo.br)
  • We retrospectively analyzed the genetic and clinical characteristics of 111 non-21OHD PAI patients in China. (bmj.com)
  • CHEK2 is a moderate risk cancer predisposition gene, but is currently listed as "Li-Fraumeni syndrome 2" in public resources used by medical geneticists and patients. (bmj.com)
  • Numerous reports throughout the 19th century and the early part of the 20th century AD gave way to systematically conducted studies on patients with OSAHS and related syndromes 1 . (ersjournals.com)
  • In the last decade, several studies have suggested the role of HMGA2 as candidate gene in those patients with SRS phenotype and negative result of classical genetic tests for SRS. (biomedcentral.com)
  • There are two types of Feingold syndrome: many patients with FS type 1 reveal also gastrointestinal defects, mainly esophageal or duodenal atresia . (chromodisorder.org)
  • A report identified this syndrome in 4% of patients with radial longitudinal deficiency. (medscape.com)
  • Although the scientific literature will produce articles on Prader-Willi syndrome, few reported oral conditions of these patients. (bvsalud.org)
  • Obesity is the major cause of the morbidity and mortality increasing among patients exhibiting the syndrome 3 . (bvsalud.org)
  • Phenotype Analysis and Genetic Study of Chinese Patients With Treacher Collins Syndrome. (cdc.gov)
  • Nous avons génotypé les deux polymorphismes mononucléotidiques du gène ADIPOQ chez 140 patients atteints de DNID sans lien de parenté et 66 témoins non diabétiques en recourant à l'analyse du polymorphisme de longueur des fragments de restriction par réaction en chaîne de polymérase. (who.int)
  • Typically, familial cold autoinflammatory syndrome (FCAS) causes a cold-induced urticarial rash accompanied by fever and sometimes arthralgias. (msdmanuals.com)
  • Inflammatory linear verrucous epidermal nevus may occur with musculoskeletal abnormalities in a few children, prompting the classification of inflammatory linear verrucous epidermal nevus as part of epidermal nevus syndrome. (medscape.com)
  • PTEN-hamartoma tumor syndrome, which includes both Bannayan-Riley-Ruvalcaba syndrome and Cowden's syndrome, is caused by abnormalities in the eponymous PTEN gene. (medscape.com)
  • Detecting Hearing Loss in Infants With a Syndrome or Craniofacial Abnormalities Following the Newborn Hearing Screen. (cdc.gov)
  • Idiopathic or genetic generalized epilepsies (IGE) constitute an electroclinically well-defined group that accounts for almost one third of all people with epilepsy. (jle.com)
  • More recently, other classification systems for Bartter syndrome have been developed. (medscape.com)
  • Seyberth proposed a classification of Bartter syndrome that takes into account the three main anatomic and pathophysiologic disturbances that lead to the salt-losing tubulopathy. (medscape.com)
  • Exome analysis in a retrospective study found that a broad kidney gene panel found new genetic diagnoses and could have a role in a diagnostic approach. (ajmc.com)
  • A total of 16 Chinese probands with Stickler syndrome were recruited, including nine with a family history of an autosomal dominant pattern and seven sporadic cases. (molvis.org)
  • In this study, 12 Chinese probands lacked obvious systemic phenotypes. (molvis.org)
  • The epidemiology of obstructive sleep apnoea (OSA)/hypopnoea syndrome (OSAHS) has been described in a significant number of studies. (ersjournals.com)
  • Spastic paraplegia, ataxia, mental retardation (SPAR): a novel genetic disorder. (wikigenes.org)
  • Other contributors to genetic susceptibility, for example, polymorphisms, may have a higher relative contribution to risk, but their lower penetrance makes identification more difficult. (hindawi.com)
  • Furthermore, modification of genetic susceptibility by environmental factors, both endogenous and exogenous, may alter the degree of penetrance. (hindawi.com)
  • The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. (gersteinlab.org)
  • The application of this model for analysis of developmental perturbations is extended by the accurate prediction of DS cerebellar phenotypes. (johnshopkins.edu)
  • Routine genetic analysis for CHI was normal in the blood and resected pancreatic tissue. (lu.se)
  • Craniofacial morphology in Apert syndrome: a systematic review and meta-analysis. (cdc.gov)