Dresden, Germany30 September - 3 October 2015 Identification of pyrin targets by CHiP-Seq Authors: Citation: Pediatric Rheumatology 2015 13(Suppl 1):P125 Content type: Poster presentation Published on: 28 September 2015 View Full Text View PDF Is Familial [ped-rheum.biomedcentral.com]

More than 75% of patients present with palatal anomalies (e.g. overt cleft palate, cleft lip and palate, velopharyngeal incompetence) that may lead to hypernasal speech, feeding and swallowing difficulties. Developmental delay is frequent. [orpha.net]

Of importance, this patient also presented with CACNA1C duplication. [jamanetwork.com]

We present a child with a de-novo interstitial 1665 kb duplication of 2p16.1-p15. [pubfacts.com]

We present monozygotic twin sisters showing the typical clinical picture of the syndrome. The phenotype of the sisters was very similar, with a slightly more severe presentation in Twin B. [researchain.net]

• Disability

  […] intellectual disability Autistic features (not meeting DSM-IV or ADOS-G criteria for an ASD). [autism.mindspec.org]

  Intellectual disability, developmental delay, and/or ASD Coe BP, et al. (2014) Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital [gene.sfari.org]

  Application of whole genome copy number variants (CNVs) analysis indicated that individuals with developmental disability, such as developmental delay and intellectual disability, accounts for up to 14% of population [37] – [39]. [journals.plos.org]

  Family Membership is open to those affected by a Rare Chromosome Disorder or certain Autosomal Dominant Single Gene Disorders causing as a minimum learning disability/developmental delay, among other symptoms. [rarechromo.org]

  Gregory-Evans, Evica Rajcan-Separovic The 2p15p16.1 microdeletion syndrome has a core phenotype consisting of intellectual disability, microcephaly, hypotonia, delayed growth, common craniofacial features, and digital anomalies. [insight.jci.org]

• Developmental Delay

  Developmental delay/intellectual disability Bagheri H, et al. (2016) bagheri_16_DD/ID_discovery_cases-case5 Developmental milestones: developmental delay. Motor and musculoskeletal evaluation: abnormal curvature of the spine. [gene.sfari.org]

  Developmental delay/intellectual disability 60423454 61394496 971043 GRCh38 Deletion No bagheri_16_DD/ID_discovery_cases-case5 16 yrs. M Developmental delay/intellectual disability Developmental milestones: developmental delay. [autism.mindspec.org]

  Family Membership is open to those affected by a Rare Chromosome Disorder or certain Autosomal Dominant Single Gene Disorders causing as a minimum learning disability/developmental delay, among other symptoms. [rarechromo.org]

  The patients share common but unspecific symptoms such as developmental delay, seizures, ventriculomegaly, hypotonia, and fifth finger clinodactyly. [researchain.net]

  Children with this syndrome generally share certain features including microcephaly, developmental delay, facial dysmorphism, urogenital and skeletal abnormalities. We present a child with a de-novo interstitial 1665 kb duplication of 2p16.1-p15. [pubfacts.com]

• Short Stature

  Microcephaly, short stature, genitourinary abnormalities and behavioral problems are common.EtiologyThis syndrome is caused by an interstitial deletion 2p15p16.1 (present in mosaic in one patient). [malacards.org]

  "A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion". [en.wikipedia.org]

  stature [ 2 ]. [bmcmedgenet.biomedcentral.com]

  stature, pituitary and cerebellar defects, and small sella turcica OMIM# Gene Target Gene Map Locus 262700 LHX4 1q25.2 Smith-Lemli-Opitz syndrome OMIM# Gene Target Gene Map Locus 270400 DHCR7 11q13.4 Smith-Magenis syndrome OMIM# Gene Target Gene Map [questdiagnostics.com]

  122470 Cornelia de Lange syndrome 2 (CDLS2) Cornelia de Lange 氏症候群 第2型 Xp11.22 300590 Cortical dysplasia-focal epilepsy syndrome 皮質發育不良併局部癲癇症候群 7q35-q36.1 610042 Cowden syndrome 1 (CWS1) Cowden 氏症候群 10q23.2-q23.31 158350 Craniofacial dysostosis with short [phalanx.com.tw]

• Pain

  […] multicentre trial and economic evaluation of cannabinoids to slow progression in multiple sclerosis 2005 NIHR Health Technology Assessment programme Longer term clinical and economic benefits of offering acupuncture care to patients with chronic low back pain [database.inahta.org]

  Kalil, MT Barros, W Passarelli, CL Jorge, A Pontillo and LHM Castro Citation: Pediatric Rheumatology 2015 13(Suppl 1):P151 Content type: Poster presentation Published on: 28 September 2015 View Full Text View PDF Remarkable improvement of articular pain [ped-rheum.biomedcentral.com]

  In addition, the proband’s mother referred a very high pain threshold in her daughter, who, for example, never required analgesia after surgery. [bmcmedgenet.biomedcentral.com]

• Feeding Difficulties

  Duplications encompassing 5p13.2 cause a defined syndrome with macrocephaly, distinct facial phenotype, heart defects, talipes equinovarus, feeding difficulties, respiratory distress and anomalies of the central nervous system, developmental delay and [researchain.net]

• Prolapse

  Echocardiogram revealed prolapse of both mitral valve leaflets and slight mitral regurgitation. After regular cardiologic follow-up, valve replacement was performed at the age of 45 years. [bmcmedgenet.biomedcentral.com]

• Suggestibility

  We suggest that the disruption and the possible removal of TRPS1 cis regulatory elements, such as the LINC00536, might be causative, consistent with the previous hypotheses in a few reported patients [ 12 – 15 ]. [bmcmedgenet.biomedcentral.com]

  This suggests that spermatogenesis is a very delicate moment susceptible to a type of “explosion” of chromosomes that determines either reciprocal translocations or CCRs. [jmg.bmj.com]

  Brain MRI shows enlarged 4th ventricle, mild hypoplasia of inferior cerebellar vermis, small anterior pituitary and pons, thickening of cortex & hyperintense subcortical tissue (suggestive of demyelination or cortical dysplasia). [gene.sfari.org]

  These data suggested possible parent-of-origin and / or imprinting effects of these coding changes. [cordis.europa.eu]

  Her chromosome 6 centromeric signal was split between the deleted chromosome and the marker, suggesting that this deletion arose through the centromere fission mechanism. [researchain.net]

• Widely Spaced Nipples

  Some of the patients also had feeding problems in infancy, microcephaly, optic nerve hypoplasia and hydronephrosis, wide-spaced nipples, short stature, cortical dysplasia, camptodactyly and pigeon toe. [1] [2] [3] Cause [ edit ] Human chromosome 2. [en.wikipedia.org]

  Dysmorphic features: epicanthal folds, high narrow palate, retrognathia, cleft lip/palate, widely spaced nipples. [gene.sfari.org]

  Dysmorphic features: epicanthal folds, high narrow palate, retrognathia, cleft lip/palate, widely spaced nipples. Developmental delay/intellectual disability 60423454 61394496 971043 GRCh38 Deletion No bagheri_16_DD/ID_discovery_cases-case5 16 yrs. [autism.mindspec.org]

• Narrow Forehead

  We evaluated a boy (LIT-001-025) with severe developmental delay, seizures, microcephaly, hypoplastic corpus callosum, internal hydrocephalus and dysmorphic features (narrow forehead, round face, deep-set eyes, blue sclerae, large and prominent ears, [cordis.europa.eu]

• Seizure

  There was no family history of seizures or ID. [jamanetwork.com]

  About this region Open Access Download Options Cite My Articles Additional Article Information Article stats Permalink Abstract “Angelman syndrome” (AS) is a neurodevelopmental disorder whose main features are intellectual disability, lack of speech, seizures [journals.scholarsportal.info]

  Epilepsy/seizures: none reported. EEG: normal. Brain imaging: structural brain abnormalities detected by neuroimaging; cortical dysplasia on cranial MRI. Vision evaluation: strabismus. [gene.sfari.org]

  The patients share common but unspecific symptoms such as developmental delay, seizures, ventriculomegaly, hypotonia, and fifth finger clinodactyly. [researchain.net]

  Grange and Shashikant Kulkarni, Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst, European Journal of Medical Genetics, 55, 8-9, (485), (2012). [doi.org]

• Global Developmental Delay

  Growth parameters: height & weight 75-90 %ile; OFC Moderately severe global developmental delay, moderate intellectual disability Rajcan-Separovic E, et al. (2006) rajcan-separovic_07_ASD_discovery_cases-subject2 Autistic features (not meeting DSM-IV [gene.sfari.org]

  developmental delays and epilepsy 2q24.2-32.2 deletion 2q37.3 deletion Duplication at 2q37.3 of 2.3 mb and a deletion2q37.3 of 2.4 mb P Arm 2p16.3 deletion DUPLICATIONS Q Arm 2q37.3 duplication DELETIONS P Arm 3p21 Microduplication 3 p26.3-p26.2 Deletion [arcan.org.au]

  Growth parameters: height & weight 75-90 %ile; OFC Moderately severe global developmental delay, moderate intellectual disability 57119361 61619361 4500001 GRCh38 Deletion Yes rajcan-separovic_07_ASD_discovery_cases-subject2 6 M Developmental delay & [autism.mindspec.org]

• Apraxia

  Raskind, Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech, PLOS ONE, 10.1371/journal.pone.0153864, 11, 4, (e0153864), (2016). Carolina J. Jorgez, Jill A. Rosenfeld, Nathan R. Wilken, Hima V. [doi.org]

  […] a progressive neurodevelopmental disorder characterised by apparently normal psychomotor development during the first months of life, followed by regression in language and motor skills, stereotypic hand movements, autistic features, gait ataxia and apraxia [cordis.europa.eu]

Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here. [pediascape.org]

[…] of women with early breast cancer 2015 NIHR Health Technology Assessment programme INVESTIGATE-I (INVasive Evaluation before Surgical Treatment of Incontinence Gives Added Therapeutic Effect?) [database.inahta.org]

Management and treatment Treatment depends on the associated abnormalities. It may consist of heart and/or palate surgery, speech therapy, nasogastric feeding, calcium supplementation, and psychological therapy. [orpha.net]

Chapters feature an accessible and easy-to-read layout and provide updates on the tremendous progress made in the last decade in the understanding of the nature of hematologic malignancies and their treatment. [books.google.de]

[…] access The presence of the putative Gardnerella vaginalis sialidase A gene in vaginal specimens is associated with bacterial vaginosis biofilm journalArticle A1 The present and future disease burden of hepatitis C virus (HCV) infection with today's treatment [biblio.ugent.be]

Prognosis The prognosis is variable and depends on the severity of the disease. The infant mortality rate is relatively low (~4%); in adults mortality is higher than that of the rest of the adult population. [orpha.net]

There is an association between prognosis and the somatic hypermutation status of the IGHV genes in CLL [ 5, 6 ]. [molecularcytogenetics.biomedcentral.com]

The amplification in our patient is smaller than that in the three previously published patients but the only phenotype difference is the absence of seizures in our patient.ConclusionsOur observations indicate that for the assessment of prognosis, especially [researchain.net]

Tumors with PAX7-FOXO1 gene fusion transcript show a predilection for younger patients, appear in the extremities and have a better prognosis. [atlasgeneticsoncology.org]

Our findings indicate that in prenatal cases with apparently balanced rearrangements, array CGH should be performed to determine whether chromosomal imbalances are present and to allow proper prognosis. [jmg.bmj.com]

Synonyms 2p15-p16.1 microdeletion syndrome|2p15p16.1 microdeletion syndrome|del(2)(p15p16.1)|monosomy 2p15-p16.1|monosomy 2p15p16.1 Etiology Please input defination information here. Diagnosis Please input defination information here. [pediascape.org]

DiGeorge syndrome, velocardiofacial syndrome, cardiofacial syndrome) but are now known to be etiologically identical and are referred to as 22q11.2 DS. [orpha.net]

This study highlights the importance of reinvestigating adults with childhood-onset epilepsy and ID without a clear etiologic diagnosis. [jamanetwork.com]

[…] conference C3 open access The problem of collecting different body fluids from drivers in the surveys misc The problem of high order multiple pregnancies resulting from infertility treatment. journalArticle A2 The problem of middle ear cholesteatoma: etiology [biblio.ugent.be]

All partners received the output from WES analysis and are currently evaluating the most relevant changes in their corresponding families in order to understand if the identified variants can be etiological causes of ID. [cordis.europa.eu]

Kyle Springer Science & Business Media, 22.09.2012 - 1431 Seiten Neoplastic Diseases of the Blood integrates the history, epidemiology, pathology, pathophysiology, and therapeutics of modern neoplastic hematopathology. [books.google.de]

Summary Epidemiology The worldwide incidence is estimated at 1/2,000-1/4,000 live births. Clinical description 22q11.2 DS shows a variable clinical phenotype that can range from mild to severe. [orpha.net]

[…] making: an annotated bibliography and systematic review 2003 NIHR Health Technology Assessment programme Systematic review of isolation policies in the hospital management of methicillin-resistant Staphylococcus aureus: a review of the literature with epidemiological [database.inahta.org]

Kyle Springer Science & Business Media, 22.09.2012 - 1431 Seiten Neoplastic Diseases of the Blood integrates the history, epidemiology, pathology, pathophysiology, and therapeutics of modern neoplastic hematopathology. [books.google.de]

Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, via Viotti 3/5, Milan, Italy (3) Medical Clinic, Hospital San Gerardo, Università di Milano-Bicocca, Monza, via Pergolesi 33, Italy (4) Department of Pathophysiology [bmcmedgenet.biomedcentral.com]

[…] with reconstruction of the posterior urethra. ( 2002 ) BJU INTERNATIONAL. 89 (1). p.133-135 conference C3 The pupils of migraine patients: preliminary results misc open access The puzzle of chronic pain: will genetics force a major breakthrough of the pathophysiology [biblio.ugent.be]

[…] and avoidance of drug- and nephrotoxin-induced AKI journalArticle A2 The prevention of coronary disease in clinical practice; The recommendations of the Second Joint Task Force of European Societies of the Prevention of Coronary Pathology. [biblio.ugent.be]

[…] programme Positive behaviour support training for staff for treating challenging behaviour in people with intellectual disabilities: a cluster RCT 2020 NIHR Health Technology Assessment programme Denosumab, raloxifene, romosozumab and teriparatide to prevent [database.inahta.org]

In this family the location of the proximal breakpoint in the centromere prevented cloning of the deletion junction, but the junction of the more distal deletion in the second patient was cloned and sequenced. [researchain.net]

By contrast, if a detailed CNVs analysis is performed on the preimplantation embryos, it would be possible to prevent the occurrence in this population. [journals.plos.org]

The possibility of specific diagnosis and prevention are dependent on the identification of gene defects and chromosome abnormalities associated with this disorder. [cordis.europa.eu]