{"orpha":199310,"name":"Tetragametic chimerism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["46,XX/46,XY chimerism"],"definition":"A rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199310/","orphanet_url":"https://www.orpha.net/en/disease/detail/199310","names":{"fr":{"name":"Syndrome de chimère tétragamétique","synonyms":["Chimère 46,XX/46,XY"],"definition":"Maladie rare du développement sexuel caractérisée par la présence de deux jeux de chromosomes maternels et paternels haploïdes et par un tableau clinique variable, allant d'organes génitaux masculins ou féminins normaux à des organes génitaux variables et ambigus et, souvent, à l'infertilité. En outre, dans le cas de jumeaux dizygotes monochoriaux, la maladie peut se limiter au sang des jumeaux."},"de":{"name":"Tetragametischer Chimärismus","synonyms":["46,XX/46,XY Chimerismus"]},"es":{"name":"Síndrome de quimerismo tetragamético","synonyms":["Quimerismo 46,XX/46,XY"],"definition":"Es un trastorno poco frecuente del desarrollo sexual caracterizado por dos conjuntos haploides diferentes de cromosomas maternos y paternos y fenotipo variable, desde genitales masculinos o femeninos normales, hasta diferentes grados de genitales ambiguos y, con frecuencia, infertilidad. Además, en el caso de gemelos dicigóticos monocoriales, también puede estar confinado a la sangre de ambos gemelos."},"it":{"name":"Sindrome chimerismo tetragametico","synonyms":["Chimerismo 46,XX/46,XY"],"definition":"Il chimerismo tetragametico è una malattia rara dello sviluppo sessuale che riguarda i cromosomi sessuali, caratterizzata da due diversi assetti di cromosomi aploidi materno e paterno, e da un quadro clinico variabile, che va dai genitali maschili o femminili normali, ai genitali variabilmente ambigui e, spesso, infertilità. Inoltre, nel caso dei gemelli dizigoti monocoriali, può essere confinato nel sangue dei due gemelli."},"nl":{"name":"Tetragametisch chimerisme-syndroom","synonyms":["46,XX/46,XY-chimerisme"],"definition":"Een zeldzame geslachtschromosomale afwijking van geslachtsontwikkeling, gekarakteriseerd door twee verschillende sets van maternale en paternale chromosomen en een variabel fenotype gaande van normale mannelijke of vrouwelijke genitaliën tot verschillende gradaties van ambigue genitaliën en vaak onvruchtbaarheid. In geval van monochoriale dizygote tweelingen kan het beperkt blijven tot bloed van beide tweelingen."},"pt":{"name":"Quimerismo tetragamético"},"pl":{"name":"Zespół chimeryzmu tetragametycznego","synonyms":["Chimeryzm 46,XX/46,XY"],"definition":"*Chimeryzm tetragametyczny jest rzadkim zaburzeniem rozwoju płciowego spowodowanym aberracją chromosomów płciowych, które charakteryzuje się obecnością dwóch różnych haploidalnych zestawów chromosomów odmatczynych i odojcowskich oraz zmiennym fenotypem - od prawidłowych narządów płciowych męskich lub żeńskich, do obojnactwa różnego stopnia; często występuje bezpłodność. W przypadku jednokosmkówkowych bliźniąt dwuzygotycznych chimeryzm może być ograniczony do krwi obu bliźniaków."},"cs":{"name":"Tetragametický chimérismus","synonyms":["Chimérismus 46,XX/46,XY"]},"uk":{"name":"Тетрагаметний химерізм","synonyms":["46,XX/46,XY химерність"],"definition":"A rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins."},"zh":{"name":"四配子异源嵌合体","synonyms":["46,XX/46,XY嵌合体"],"definition":"四配子嵌合体是一种罕见的以来自父亲和母亲的各两个不同的的单倍体为特征的性发育障碍疾病，其主要临床为正常的男性或正常女性或不同程度的两性畸形，且多为不育，以性染色体方式遗传。此外，在单绒毛膜双卵双胞胎中，可在两个双胞胎的血液中存在。"},"tr":{"name":"Tetragametik kimerizm","synonyms":["46, XX / 46, XY kimerizmi"]}},"xrefs":[{"source":"ICD-10","code":"Q99.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD56","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1262245334"},{"source":"MONDO","code":"0016045","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432480","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":325546,"name":"Sex chromosome difference of sex development","classifications":[147,156,185,193]},{"orpha":325638,"name":"Syndrome with difference of sex development of gynecological interest","classifications":[156,205]},{"orpha":263749,"name":"X and Y chromosomal anomaly syndrome","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-04-13","source":"19777529[PMID]_20664426[PMID]_23726690[PMID]_24706113[PMID]_17430077[PMID]_1743077[PMID]_17917028[PMID]_19154517[PMID]_19255770[PMID]_20692777[PMID]_21554308[PMID]","terms":[{"hpo":"HP:0010987","label":"Abnormal cellular immune system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000035","label":"Abnormal testis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012145","label":"Abnormality of multiple cell lineages in the bone marrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000137","label":"Abnormality of the ovary","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000045","label":"Abnormality of the scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010970","label":"Blood group antigen abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008723","label":"Gonadal dysgenesis with female appearance, male","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012861","label":"Ovotestis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000051","label":"Perineal hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010459","label":"True hermaphroditism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Excluded (0%)","criteria":null}]}}