{"orpha":10,"name":"48,XXYY syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-10/","orphanet_url":"https://www.orpha.net/en/disease/detail/10","names":{"fr":{"name":"Syndrome 48,XXYY","definition":"Anomalie rare de nombre des gonosomes caractérisée, sur le plan génétique, par la présence d'un chromosome X et d'un chromosome Y supplémentaires chez un garçon et, sur le plan clinique, par une grande taille, un dysfonctionnement des testicules associé à la stérilité et à une production insuffisante de testostérone, une altération du fonctionnement cognitif, affectif et social, un retard global de développement et un risque accru de malformations congénitales."},"de":{"name":"48,XXYY-Syndrom","definition":"Das 48,XXYY-Syndrom ist eine aneuploide Chromosomenanomalie mit je einem überzähligen X- und Y-Chromosom bei männlichen Patienten. Das Syndrom ist klinisch gekennzeichnet durch Hochwuchs, dysfunktionale Hoden, Infertilität und unzureichende Testosteronproduktion, kognitive, affektive und soziale Funktionsstörungen, globale Entwicklungsverzögerungen und ein erhöhtes Risiko für angeborene Fehlbildungen."},"es":{"name":"Síndrome 48,XXYY","definition":"Es una anomalía poco frecuente del número de cromosomas sexuales caracterizada genéticamente por la presencia de un cromosoma X e Y adicional en varones. Clínicamente se caracteriza por talla alta, testículos disfuncionales asociados a infertilidad y una producción insuficiente de testosterona, deterioro cognitivo, afectivo y del funcionamiento social, retraso generalizado del desarrollo y riesgo incrementado de malformaciones congénitas."},"it":{"name":"Sindrome 48,XXYY","definition":"È un'aneuploidia rara che riguarda il numero dei cromosomi sessuali; è caratterizzata dalla presenza di un cromosoma X e Y soprannumerari in soggetti maschi. Dal punto di vista clinico presenta alta statura, disfunzione dei testicoli associata ad infertilità e ridotta produzione di testosterone, deficit cognitivo, affettivo e di interazione sociale, ritardo dello sviluppo globale e aumento del rischio di difetti congeniti."},"nl":{"name":"48,XXYY-syndroom","synonyms":["48,XXYY"],"definition":"Een zeldzame anomalie van het aantal geslachtschromosomen die genetisch gekarakteriseerd wordt door de aanwezigheid van een extra X- en Y-chromosoom bij mannen, en klinisch gekenmerkt wordt door een grote gestalte, disfunctionele testes geassocieerd met onvruchtbaarheid en onvoldoende productie van testosteron, verstoorde cognitieve, affectieve en sociale functies, algehele ontwikkelingsachterstand, en een verhoogd risico op congenitale malformaties."},"pt":{"name":"Síndrome 48,XXYY","definition":"A síndrome 48,XXYY representa uma anomalia cromossómica do tipo aneuplóide caracterizada pela presença de um cromossoma X e um cromossoma Y extra nos homens."},"pl":{"name":"Zespół 48,XXYY"},"cs":{"name":"Syndrom 48,XXYY"},"uk":{"name":"48,XXYY синдром","definition":"A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations."},"zh":{"name":"48，XXYY综合征"},"tr":{"name":"48, XXYY sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q98.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD50.3Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1361497245"},{"source":"MONDO","code":"0015028","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007713","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2936741","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5677","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10048230","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":325546,"name":"Sex chromosome difference of sex development","classifications":[147,156,185,193]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]},{"orpha":263749,"name":"X and Y chromosomal anomaly syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Adolescent","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.9,"area":"Europe","status":"Validated","source":"[EXPERT]_568179[PMID]_14477077[PMID]_2090319[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003043","label":"Abnormality of the shoulder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005469","label":"Flat occiput","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010807","label":"Open 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