Filter...

AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesAnthropology, Education, Sociology and Social PhenomenaInformation ScienceNamed GroupsHealth Care

Select a category...

CHARGE Syndrome22q11 Deletion SyndromeChoanal AtresiaSyndromeColobomaDiGeorge SyndromeChromosomes, Human, Pair 22Abnormalities, MultipleChromosome DeletionAuditory Brain Stem ImplantationVelopharyngeal InsufficiencyGene DeletionKallmann SyndromeDNA HelicasesHeart Defects, CongenitalSexual InfantilismDeaf-Blind DisordersCraniofacial AbnormalitiesChromosome DisordersIntellectual DisabilitySequence DeletionGenitaliaPhenotypeSepto-Optic DysplasiaJacobsen Distal 11q Deletion SyndromeEustachian TubeMutationEar, InnerDown SyndromeVestibular DiseasesHypoparathyroidismMetabolic Syndrome XFacial ParalysisDNA-Binding ProteinsSphenoid BoneDevelopmental DisabilitiesCri-du-Chat SyndromeEar, MiddleParietal BoneVestibular NerveHemizygoteFaciesIn Situ Hybridization, FluorescenceWAGR SyndromeChromosome BreakageCranial Fossa, PosteriorHypocalcemiaCatechol O-MethyltransferaseDNA Mutational AnalysisKaryotypingMuscle HypotoniaNephrotic SyndromeEye AbnormalitiesSchizophreniaSjogren's SyndromeDeafnessMolecular Sequence DataT-Box Domain ProteinsStanford-Binet TestPedigreeCentral Nervous System DiseasesExostoses, Multiple HereditaryLearning DisordersMonosomyTurner SyndromeFaceLanguage Development DisordersChromosome AberrationsChromosome MappingComparative Genomic HybridizationChromosome BandingMyelodysplastic SyndromesChromosomes, Human, Pair 1Olfactory BulbInfant, NewbornChromosomes, Human, Pair 6Base SequenceStaphylococcus lugdunensisCushing SyndromeWilliams SyndromeCleft PalateGenotypeBrainAcute Coronary SyndromeDisease Models, AnimalPolycystic Ovary SyndromeMagnetic Resonance ImagingBranchial RegionPrader-Willi SyndromeIntelligence TestsCase-Control StudiesGrowth DisordersGene DosageHospital ChargesAmino Acid SequenceHorner SyndromeLong QT SyndromeSiblingsCognition DisordersTranslocation, Genetic

DiGeorgeMicrodeletionChromosome 22q11AbnormalitiesAnomalies22q11.2 deletionAutosomalChromosomalPhenotypesCongenitalAnomalyOccursMARFAN SYNDROMEOMIMAutoimmuneIncidenceHeterogeneityTrisomy 182017OccurHypocalcemiaDevelopmentalDisordersClinical1999PhenotypeDefectsEtiologyCloselyIndividualsTypeHospitalsResultPrognosticPeopleSevereCATCH

DiGeorge13

• 22q11.2 deletion syndrome, also called DiGeorge syndrome, velocardiofacial syndrome, or conotruncal anomaly face syndrome, is a disorder that occurs when an individual is missing a portion of chromosome 22. (myriad.com)
• DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. (wikipedia.org)
• DiGeorge syndrome is typically due to the deletion of 30 to 40 genes in the middle of chromosome 22 at a location known as 22q11.2. (wikipedia.org)
• DiGeorge syndrome occurs in about 1 in 4,000 people. (wikipedia.org)
• The syndrome was first described in 1968 by American physician Angelo DiGeorge. (wikipedia.org)
• DiGeorge syndrome may be first spotted when an affected newborn has heart defects or convulsions from hypocalcemia due to malfunctioning parathyroid glands and low levels of parathyroid hormone (parathormone). (wikipedia.org)
• Children with DiGeorge syndrome have a specific profile in neuropsychological tests. (wikipedia.org)
• DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. (beds.ac.uk)
• Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). (beds.ac.uk)
• Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal anomaly face syndrome. (beds.ac.uk)
• There are two types of sSMC, depending on the breakpoint site: type 1, the most frequent, involves the cat-eye syndrome critical region (CESCR) alone, whereas type 2, more rarely reported, involves both the CESCR and the DiGeorge syndrome critical region [ 2 ]. (hindawi.com)
• DiGeorge syndrome is associated with abnormalities of chromosome 22. (nih.gov)
• It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. (nih.gov)

Microdeletion2

• Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome]. (nih.gov)
• Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and extracardiac malformations. (nih.gov)

Chromosome 22q111

• In these infants with complete nerve facial palsy, an investigation for chromosome 22q11 deletions is recommended. (medscape.com)

Abnormalities1

• Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. (musc.edu)

Anomalies3

• Del(22q11.2) was detected in one of them, presenting with OA, tetralogy of Fallot, anal atresia, neonatal hypocalcaemia, and subtle facial anomalies resembling those of velocardiofacial syndrome. (nih.gov)
• IAA can occur with genetic syndromes such as deletion 22q11, which is associated with many external and internal anomalies. (cdc.gov)
• In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. (hindawi.com)

22q11.2 deletion18

• Many different symptoms can occur with 22q11.2 deletion syndrome, and most individuals have some but not all of the symptoms. (myriad.com)
• Learning difficulties, attention deficit hyperactivity disorder (ADHD), and autism spectrum disorders are more common in people with 22q11.2 deletion syndrome. (myriad.com)
• The types of symptoms experienced can differ significantly even between family members with 22q11.2 deletion syndrome. (myriad.com)
• How common is 22q11.2 Deletion Syndrome? (myriad.com)
• The incidence of 22q11.2 deletion syndrome in the population is 1 in 2,000 to 1 in 7,000 births. (myriad.com)
• Parents of a child with 22q11.2 deletion syndrome may wish to have themselves tested to determine their chances of having other children with the condition. (myriad.com)
• How is 22q11.2 Deletion Syndrome treated? (myriad.com)
• There is no cure for 22q11.2 deletion syndrome, and treatment depends on the needs of the child. (myriad.com)
• Children with 22q11.2 deletion syndrome may need to be seen by a variety of specialties, including cardiology, audiology, endocrinology, neurology, orthopedics, and developmental and speech therapy. (myriad.com)
• What is the prognosis for a person with 22q11.2 Deletion Syndrome? (myriad.com)
• The prognosis for individuals with 22q11.2 deletion syndrome depends on the symptoms that are present. (myriad.com)
• Simon, Tony 2007-10-23 00:00:00 Background: Previous investigations of individuals with chromosome 22q11.2 deletion syndrome (DS22q11.2) have reported alterations in both brain anatomy and cognitive function. (sagepub.com)
• Page 1 of 9 (page number not for citation purposes) Behavioral and Brain Functions 2007, 3:54 http://www.behavioralandbrainfunctions.com/content/3/1/54 tions emerging in the presence of marked psychopathol- Background Chromosome 22q11.2 deletion syndrome (DS22q11.2) ogy [18,23]. (sagepub.com)
• Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. (beds.ac.uk)
• Because the signs and symptoms of 22q11.2 deletion syndrome are so varied, different groupings of features were once described as separate conditions. (beds.ac.uk)
• In addition, some children with the 22q11.2 deletion were diagnosed with the autosomal dominant form of Opitz G/BBB syndrome and Cayler cardiofacial syndrome. (beds.ac.uk)
• To avoid confusion, this condition is usually called 22q11.2 deletion syndrome, a description based on its underlying genetic cause. (beds.ac.uk)
• Subset Code Subset Name Concept Code NCI Preferred Term NCIT Definition ACC/AHA Preferred Term ACC/AHA Synonyms(s) ACC/AHA Definition C167409 ACC/AHA Pediatric and Congenital Cardiology EHR Terminology C2989 22q11.2 Deletion Syndrome A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. (nih.gov)

Autosomal1

• If urinary calcium excretion is inappropriately normal or high, gain-of-function mutations in the autosomal dominantly inherited gene CASR should be suspected [ 2 - 9 ]. (e-apem.org)

Chromosomal1

• Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. (hindawi.com)

Phenotypes1

• HN - 2011 MH - 22q11 Deletion Syndrome UI - D058165 MN - C5.660.207.103 MN - C14.240.400.21 MN - C14.280.400.44 MN - C15.604.451.249 MN - C16.131.77.19 MN - C16.131.240.400.21 MN - C16.131.260.19 MN - C16.131.482.249 MN - C16.131.621.207.103 MN - C16.320.180.19 MN - C19.642.482.500 MS - Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. (nih.gov)

Congenital2

• is a congenital condition known to affect brain develop- ment and cognition that occurs in 1-2 out of every 4,000 Although the number of studies examining individual live births [1]. (sagepub.com)
• Shprintzen syndrome A congenital anomaly characterized by partial deletion of the short arm of chromosome 22. (nih.gov)

Anomaly1

• Understand physiology of and plan medical management of a neonate with Ebstein anomaly of the tricuspid valve and extreme hypoxemia 2. (multsimees.ee)

Occurs1

• For example, deletion 22q11 occurs in 50% or more of cases of type B IAA, and is rare in the other types. (cdc.gov)

MARFAN SYNDROME2

• Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. (nih.gov)
• Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR ( TGFBR2 ) are associated with Marfan syndrome type 2. (nih.gov)

OMIM1

• Cat-eye syndrome (CES), also referred to as Schmid-Fraccaro syndrome (OMIM 115470), is a rare genetic disease with an estimated prevalence of between 1 in 50,000 and 1 in 150,000 individuals [ 1 ]. (hindawi.com)

Autoimmune1

• Genetic syndromes, parathyroid hormone gene mutations, autoimmune polyglandular syndrome, activating mutations of calcium-sensitive receptors (CaSRs), trauma or surgery-related parathyroid gland damage, and hypomagnesemia are associated with low parathyroid hormone level, whereas nutritional vitamin D and calcium deficiency, vitamin D metabolism disorders, and PHP are associated with high parathyroid hormone level [ 2 - 9 ]. (e-apem.org)

Incidence1

• An example of a development cause is Möbius syndrome , which has an incidence of 1 per 50,000 births. (medscape.com)

Heterogeneity1

• Some of this heterogeneity can be tom-based medical diagnoses [2]. (sagepub.com)

Trisomy 181

• Glaucoma can also be associated with various chromosome aberrations (e.g. trisomy 18) or as part of a genetic syndrome (such as Axenfeld-Rieger Syndrome, genes FOXC1, PITX2 ). (dna-diagnostik.hamburg)

20171

• 2017;66(2):41-46. (medscape.com)

Occur1

• Other syndromes that can occur with IAA include CHARGE syndrome (Q30.01). (cdc.gov)

Hypocalcemia1

• Causes of childhood hypocalcemia and associated PTH level are presented in Fig. 1 [ 2 - 9 ]. (e-apem.org)

Developmental3

• In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. (hindawi.com)
• The subsequent course was marked by a severe global developmental delay: the child began sitting at the age of 2 years and 9 months and was unable to walk at the age of 3 and a half. (hindawi.com)
• In addition, variable developmental problems and schizoid features are also associated with this syndrome. (nih.gov)

Disorders1

• Once the genetic basis for these disorders was identified, doctors determined that they were all part of a single syndrome with many possible signs and symptoms. (beds.ac.uk)

Clinical3

• The Virtual Center for Velo-Cardio-Facial Syndrome, Inc. is an open-access 501(c)3, internet-based charitable organization that provides personalized information to people whose lives have been touched by VCFS and who are seeking applicable research and clinical expertise regarding the management of the syndrome. (myriad.com)
• In addition, clinical variability of del(22q11.2) syndrome is further corroborated with inclusion of OA in the list of the findings associated with the deletion. (nih.gov)
• Consensus clinical diagnostic criteria for Kabuki syndrome (KS) have been published [ Adam et al 2019 ]. (nih.gov)

19991

• 1999 Feb;36(2):137-9. (nih.gov)

Phenotype2

• 2) Immunosuppressive therapy is recommended for patients receiving RETHYMIC based on disease phenotype and PHA levels. (nih.gov)
• Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. (hindawi.com)

Defects1

• [ 2 ] Birth defects can affect persons across their lifespan and are the cause of significant lifelong disabilities. (medscape.com)

Etiology1

• Sinus tract drainage material, when current, may be representative of the etiology of underlying osteomyelitis medications 2 times a day order praziquantel visa . (multsimees.ee)

Closely1

• Waardenburg's syndrome may be closely related to piebaldism. (musc.edu)

Individuals1

• Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. (hindawi.com)

Type1

• Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. (hindawi.com)

Hospitals2

• The cost-to-charge ratio is used to account for the difference in the amount billed (charge) and the payment received by hospitals (cost). (medscape.com)
• [ 5 ] Hospital charges represent the facility fees charged by hospitals and do not include the cost of physician services, which are billed separately. (medscape.com)

Result1

• 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome. (nih.gov)

Prognostic1

• Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally. (hindawi.com)

People2

• This graph shows the total number of publications written about "Loeys-Dietz Syndrome" by people in Harvard Catalyst Profiles by year, and whether "Loeys-Dietz Syndrome" was a major or minor topic of these publication. (harvard.edu)
• Below are the most recent publications written about "Loeys-Dietz Syndrome" by people in Profiles. (harvard.edu)

Severe1

• Progression of the syndrome was marked by an uncommon, severe psychomotor delay. (hindawi.com)

CATCH1

• CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11. (nih.gov)