{"orpha":261272,"name":"17q12 microduplication syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dup(17)(q12)","Trisomy 17q12"],"definition":"17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-261272/","orphanet_url":"https://www.orpha.net/en/disease/detail/261272","names":{"fr":{"name":"Syndrome de microduplication 17q12","synonyms":["Dup(17)(q12)","Trisomie 17q12"],"definition":"Anomalie chromosomique rare avec une expression phénotypique variable et une pénétrance réduite associée à un retard de développement, une déficience intellectuelle légère à sévère, un retard de langage, des crises convulsives, une microcéphalie, des troubles comportementaux, un trouble du spectre de l'autisme, des troubles visuels ou oculaires (strabisme, astigmatisme, amblyopie, cataracte, colobome et microphtalmie), une dysmorphie non spécifique, une hypotonie, des anomalies cardiaques et rénales, une schizophrénie."},"de":{"name":"Mikroduplikationssyndrom 17q12","synonyms":["Dup(17)(q12)","Trisomie 17q12"]},"es":{"name":"Síndrome de microduplicación 17q12","synonyms":["Dup(17)(q12)","Trisomía 17q12"],"definition":"Es una anomalía cromosómica poco frecuente con una expresión fenotípica variable y penetrancia reducida asociada a retraso en el desarrollo, discapacidad intelectual de leve a grave, retraso en el habla, convulsiones, microcefalia, trastornos de conducta, desorden del espectro autista, deficiencias oculares o visuales (tales como estrabismo, astigmatismo, ambliopía, catarata, coloboma y microftalmia), características dismórficas inespecíficas, hipotonía, anomalías cardíacas y renales, esquizofrenia."},"it":{"name":"Sindrome da microduplicazione 17q12","synonyms":["Dup(17)(q12)","Trisomia 17q12"],"definition":"La sindrome da microduplicazione 17q12 è un'anomalia cromosomica rara, caratterizzata da ridotta penetranza ed un quadro clinico variabile, che comprende il ritardo dello sviluppo, la disabilità intellettiva lieve-grave, il ritardo del linguaggio, le crisi epilettiche, la microcefalia, le anomalie del comportamento, il disturbo dello spettro autistico, i difetti oculari o della vista (strabismo, astigmatismo, ambliopia, cataratta, coloboma e microftalmia), i dismorfismi aspecifici, l'ipotonia, le anomalie cardiache e renali e la schizofrenia."},"nl":{"name":"17q12-microduplicatiesyndroom","synonyms":["Dup(17)(q12)","Trisomie 17q12"],"definition":"17q12 microduplicatiesyndroom is een zeldzame chromosomale anomalie met variabele fenotypische expressie en verminderde penetrantie, geassocieerd met ontwikkelingsachterstand, milde tot ernstige intellectuele achterstand, spraakachterstand, insulten, microcefalie, gedragsafwijkingen, autismespectrumstoornis, oculaire of visuele defecten (zoals strabisme, astigmatisme, amblyopie, cataract, coloboom, en microftalmie), niet-specifieke dysmorfe kenmerken, hypotonie, hart- en nieranomalieën, en schizofrenie."},"pt":{"name":"Síndrome de microduplicação 17q12","synonyms":["Trissomia 17q12"]},"pl":{"name":"Zespół mikroduplikacji 17q12","synonyms":["Dup(17)(q12)","Trisomia 17q12"],"definition":"*Zespół mikroduplikacji 17q12 jest rzadką aberracją chromosomową ze zmienną ekspresją fenotypową i zmniejszoną penetracją, związaną z opóźnieniem rozwoju, łagodną lub ciężką niepełnosprawnością intelektualną, opóźnieniem mowy, drgawkami, małogłowiem, zaburzeniami zachowania, zaburzeniami ze spektrum autyzmu, wadami oczu lub wzroku (zez, astygmatyzm, niedowidzenie, zaćma, szczelina struktur oka (coloboma) i małoocze), niespecyficznymi cechami dysmorficznymi, hipotonią, wadami serca i nerek oraz schizofrenią."},"cs":{"name":"Syndrom mikroduplikace 17q12","synonyms":["Dup(17)(q12)","Trizomie 17q12"]},"uk":{"name":"Синдром мікродуплікації 17q12","synonyms":["Dup(17)(q12)","Трисомія 17q12"],"definition":"17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia."},"zh":{"name":"17q12微重复综合征","synonyms":["17q12三体"],"definition":"17q12微重复综合征是一种罕见的染色体异常，其表型多变，外显性降低，与发育迟缓、轻度到重度智力障碍、言语迟缓、癫痫、小头畸形、行为异常、自闭症谱系障碍、眼睛或视力缺陷(如斜视、散光、弱视、白内障、缺损和小眼球)、非特异性畸形特征、肌张力低下、心脏和肾脏异常、精神分裂症相关。"},"tr":{"name":"17q12 mikroduplikasyon sendromu","synonyms":["Dup (17) (q12)","Trizomi 17q12"]}},"xrefs":[{"source":"OMIM","code":"614526","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q92.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD41.G0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1106913619"},{"source":"MONDO","code":"0013796","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3281137","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13296","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":262968,"name":"Partial duplication of the long arm of chromosome 17 syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27409573[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":118.0,"area":"Worldwide","status":"Validated","source":"27409573[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.46,"area":"Denmark","status":"Validated","source":"27409573[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002539","label":"Cortical dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":null}]}}