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

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]

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]

Although common, lack of recognition of the condition and/or lack of familiarity with genetic testing methods, together with the wide variability of clinical presentation, delays diagnosis. [natureasia.com]

• Disability

  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]

  Methods And Results : Clinical features of this child are distinct from those of children with the 2p16.1-p15 microdeletion syndrome, specifically the head circumference which is within the normal range and mild intellectual disability with absence of [pubfacts.com]

  […] tissues include brain, kidney and testes, and related phenotypes are low-set ears and pectus excavatum OMIM : 57 Chromosome 2p16.1-p15 deletion syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability [malacards.org]

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

• 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]

• Asymptomatic

  Those with deletions including the BCL11A gene (606557) also have persistence of fetal hemoglobin (HbF), which is asymptomatic and does not affected hematologic parameters or susceptibility to infection (summary by Funnell et al., 2015). [malacards.org]

  The father in this family is an asymptomatic carrier of the same 5q13.3 deletion. [cordis.europa.eu]

• Developmental Disabilities

  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]

  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749-764. PubMed Google Scholar Crossref 15. [jamanetwork.com]

• Microstomia

  Clinical examination showed: weight 13 kg, height 98 cm, head circumference 49 cm, neonatal jaundice, dysmorphisms (narrow forehead, epicanthic folds, up-slnated palpebral fissures, large ears, dysplastic ears, microstomia), umbilical hernia, horseshoe [cordis.europa.eu]

• Low Set Ears

  Affiliated tissues include brain, kidney and testes, and related phenotypes are low-set ears and pectus excavatum OMIM : 57 Chromosome 2p16.1-p15 deletion syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual [malacards.org]

  Patient LIT-001-150 is a 14 years old girl with mild ID and facial dysmorphisms, including macrocephaly, ocular hypertelorism, low set ears and other features. A 7p22.1 de novo microduplication, 1 Mb in size, was detected by array-CGH analysis. [cordis.europa.eu]

• Behavior Disorder

  Many patients have behavioral disorders, including autistic features, as well as structural brain abnormalities, such as pachygyria or hypoplastic corpus callosum. [malacards.org]

• 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]

• Behavior Problem

  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]

  The patients in our study (patients 4 and 5) who had deletions, including SMARCA2, had some nonspecific features of Nicolaides-Baraitser syndrome, such as ID and behavioral problems. [jamanetwork.com]

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]

Time to treatment patients with and without IGVH mutation ( P  0.003). b. [molecularcytogenetics.biomedcentral.com]

You can help by adding to it. ( December 2017 ) Treatment [ edit ] This section is empty. [en.wikipedia.org]

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]

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]

[…] based dengue control conference C3 The process of social mobilisation determines sustainability of community based dengue control conference C3 The process of talking about donor conception in lesbian families: a qualitative study journalArticle A1 The prognosis [biblio.ugent.be]

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]

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]

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]