{"orpha":98797,"name":"Isochromosomy Yp syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare sex-chromosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98797/","orphanet_url":"https://www.orpha.net/en/disease/detail/98797","names":{"fr":{"name":"Syndrome d'isochromosomie yq","definition":"Anomalie rare des gonosomes avec un phénotype variable comprenant un phénotype féminin avec un retard du développement sexuel, des gonades striées, une petite taille et des caractéristiques du syndrome de Turner, et un phénotype masculin avec une infertilité due à l'azoospermie."},"de":{"name":"Isochromosom Yp","definition":"Eine seltene Gonosomenanomalie, die durch verschiedene klinische Erscheinungsformen gekennzeichnet ist, darunter normale gesunde fruchtbare Männer, männlicher Phänotyp mit Unfruchtbarkeit und Männer mit uneindeutigen Genitalien oder unvollständiger Maskulinisierung."},"es":{"name":"Síndrome de isocromosoma Yp","definition":"Es una anomalía poco frecuente de los cromosomas sexuales caracterizada por diversas presentaciones clínicas que incluyen varones fértiles sanos normales, fenotipo masculino con infertilidad y varones con genitales ambiguos o masculinización incompleta."},"it":{"name":"Sindrome isocromosomia Yp","definition":"L'isocromosomia Yp è un'anomalia gonosomica caratterizzata da un quadro clinico variabile, che varia tra la normale fertilità in un maschio in buona salute, e il fenotipo maschile con infertilità, oppure si associa alla presenza di genitali ambigui o ad una incompleta mascolinizzazione."},"nl":{"name":"Isochromosomie Yp-syndroom","definition":"Een zeldzame anomalie van geslachtschromosoom, gekenmerkt door verschillende klinische manifestaties waaronder normale gezonde fertiele mannen, mannelijk fenotype met infertiliteit, en mannen met ambigue genitaliën of onvolledige vermannelijking."},"pt":{"name":"Isocromossoma Yp","definition":"Anomalia rara dos cromossomas sexuais caracterizada por várias apresentações clínicas, incluindo homens férteis saudáveis e com genitais normais, fenótipo masculino com infertilidade e homens com genitália ambígua ou masculinização incompleta."},"pl":{"name":"Zespół izochromosomu Yp","definition":"Rzadka anomalia chromosomu płciowego dająca spektrum fenotypów klinicznych, w których mieszczą się zdrowi, płodni mężczyźni, mężczyźni z niepłodnością oraz mężczyźni z obojnaczymi narządami płciowymi lub niepełną maskulinizacją."},"cs":{"name":"Izochromozom Yp"},"uk":{"name":"Ізохромосома Yp","definition":"A rare sex-chromosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization."},"zh":{"name":"短臂等臂Y染色体","definition":"等臂染色体(Yp)是一种罕见的生殖细胞异常，临床表现多样，包括可正常生育男性、男性不育、外生殖器结构模糊或男性化不全。"},"tr":{"name":"İzokromozomi Yp"}},"xrefs":[{"source":"ICD-10","code":"Q98.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0020304","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707793","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":96325,"name":"Isochromosome Y syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-12-16","source":"3972415[PMID]_1856945[PMID]_15749513[PMID]","terms":[{"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:0003251","label":"Male infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008193","label":"Primary gonadal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Frequent (79-30%)","criteria":null}]}}