{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,3]],"date-time":"2025-08-03T23:07:15Z","timestamp":1754262435388},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,3,12]],"date-time":"2009-03-12T00:00:00Z","timestamp":1236816000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gardner\u2010Silengo\u2010Wachtel or genito\u2010palato\u2010cardiac syndrome is a disorder of male (46,XY) gonadal dysgenesis, thought to be either an X\u2010linked recessive or an autosomal recessive disorder. The propositus in our report presented with multiple congenital anomalies including micrognathia, cleft palate, congenital heart defect with D\u2010transposition, double outlet right ventricle, PFO, VSD, PDA and pulmonary valve stenosis and gonadal dysgenesis. Chromosome analysis showed a 46, XY, t(1;7)(q32,q22.1) der(10) t(3;10) (q21;q26)pat karyotype. This represents a rare case of autosomal aneuploidy associated with Gardner\u2010Silengo\u2010Wachtel or genito\u2010palato\u2010cardiac syndrome and suggests genetic heterogeneity for this syndrome. Partial monosomy of 10q also shares many of the prominent features of genito\u2010palato\u2010cardiac syndrome, including gonadal dysgenesis, cardiac defects and facial features. Monosomy for distal 10q may present as a phenocopy of Gardner\u2010Silengo\u2010Wachtel or genito\u2010palato\u2010cardiac syndrome. Alternatively, unmasking of a recessive allele on distal 10q may result in genito\u2010palato\u2010cardiac syndrome, thus potentially localizing a candidate region for the gene to 10q26\u2009\u2192\u2009qter. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32755","type":"journal-article","created":{"date-parts":[[2009,3,12]],"date-time":"2009-03-12T19:20:42Z","timestamp":1236885642000},"page":"693-697","source":"Crossref","is-referenced-by-count":4,"title":["Gardner\u2010Silengo\u2010Wachtel or genito\u2010palato\u2010cadiac syndrome with associated autosomal aneuploidy"],"prefix":"10.1002","volume":"149A","author":[{"given":"Mahin","family":"Golabi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aaron W.","family":"James","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nina","family":"Desai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine","family":"Culver","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip D.","family":"Cotter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,3,24]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190223"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.17.4.291"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31053"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260110"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.620411.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(70)91441-8"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260111"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20220"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2000.00412.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970211)68:4<428::AID-AJMG11>3.0.CO;2-U"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00218.x"},{"key":"e_1_2_5_13_1","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/BF00281008","article-title":"A 46, XY infant with uterus, dysgenetic gonads and multiple anomalies","volume":"25","author":"Silengo M","year":"1974","journal-title":"Humangenetik"},{"key":"e_1_2_5_14_1","first-page":"853","article-title":"Partial duplication of 3q and distal deletion of 10q inherited from a maternal balanced translocation","volume":"103","author":"Su PH","year":"2004","journal-title":"J Formos Med Assoc"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.9.767"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990903)86:1<1::AID-AJMG1>3.0.CO;2-A"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460527"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/33163"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320319"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32755","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32755","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:14:07Z","timestamp":1697602447000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32755"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,24]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,4]]}},"alternative-id":["10.1002\/ajmg.a.32755"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32755","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3,24]]}}}