{"orpha":98798,"name":"Isochromosomy Yq syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare sex-chromosome anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features, and a male phenotype with infertility due to azoospermia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98798/","orphanet_url":"https://www.orpha.net/en/disease/detail/98798","names":{"fr":{"name":"Syndrome d'isochromosomie yp","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 Yq","definition":"Eine seltene Geschlechtschromosomenanomalie mit variablem Phänotyp, einschließlich eines weiblichen Phänotyps mit verzögerter sexueller Entwicklung, Streifenhoden, Kleinwuchs und Merkmalen des Turner-Syndroms, und eines männlichen Phänotyps mit Unfruchtbarkeit aufgrund von Azoospermie."},"es":{"name":"Síndrome de isocromosoma Yq","definition":"Es una anomalía poco frecuente de los cromosomas sexuales con un fenotipo variable que incluye un fenotipo femenino, con retraso del desarrollo sexual, gónadas estriadas, talla baja y características del síndrome de Turner, y un fenotipo masculino con infertilidad debido a la azoospermia."},"it":{"name":"Sindrome isocromosomia Yq","definition":"L'isocromosoma Yq è un'anomalia gonosomica rara, caratterizzata da un quadro clinico variabile, che comprende un fenotipo femminile con ritardo dello sviluppo sessuale, gonadi a banderella fibrosa, bassa statura e i segni clinici caratteristici della sindrome di Turner, oppure un fenotipo maschile con infertilità da azoospermia."},"nl":{"name":"Isochromosomie Yq-syndroom","definition":"Een zeldzame anomalie van geslachtschromosoom met een variabel fenotype waaronder een vrouwelijk fenotype met vertraagde geslachtsontwikkeling, 'streak'-gonaden (bindweefselstrengen zonder geslachtscellen), kleine gestalte en kenmerken van syndroom van Turner, en een mannelijk fenotype met onvruchtbaarheid door azoöspermie."},"pt":{"name":"Síndrome de isocromossoma Yq","definition":"Anomalia rara dos cromossomas sexuais com um fenótipo variável, incluindo um fenótipo feminino com atraso no desenvolvimento sexual, gónadas em fita, baixa estatura e características da síndrome de Turner e um fenótipo masculino com infertilidade devida a azoospermia."},"pl":{"name":"Zespół izochromosomu Yq","definition":"Rzadka anomalia chromosomów płciowych o zmiennym fenotypie, obejmującym fenotyp żeński z opóźnieniem rozwoju płciowego, pasmowate gonady, niski wzrost i cechy zespołu Turnera oraz fenotyp męski z niepłodnością spowodowaną azoospermią."},"cs":{"name":"Izochromozom Yq"},"uk":{"name":"Ізохромосома Yq","definition":"A rare sex-chromosome anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features, and a male phenotype with infertility due to azoospermia."},"zh":{"name":"长臂等臂Y染色体","definition":"等臂染色体(Yq)是一种罕见的性染色体异常，表型多样，包括女性表型伴性发育迟缓、条纹状性腺、身材矮小和Turner综合征表现，以及男性无精症所致不育。"},"tr":{"name":"İzokromozomi Yq"}},"xrefs":[{"source":"ICD-10","code":"Q98.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0020305","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749291","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]_4751309[PMID]_1466561[PMID]_15150784[PMID]_6859108[PMID]_2265826[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},{"hpo":"HP:0012871","label":"Varicocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003248","label":"Gonadal tissue inappropriate for external genitalia or chromosomal sex","frequency":"Occasional (29-5%)","criteria":null}]}}