{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T02:31:02Z","timestamp":1784255462190,"version":"3.55.0"},"reference-count":9,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2014,7,29]],"date-time":"2014-07-29T00:00:00Z","timestamp":1406592000000},"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":[[2014,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Cryptorchidism is the most common genital problem encountered in males and is associated with many chromosomal disorders; however, the genetic factors are mostly unknown. To delineate critical genes affecting testicular migration, we performed genotype\u2013phenotype correlation in patients with deletions involving the proximal short arm of chromosome 10 (10p11\u2013p12), a rare abnormality characterized by developmental delay, craniofacial abnormalities, and in some cases, cryptorchidism. Here we report on a male patient with developmental delay, mild craniofacial dysmorphism, bilateral cryptorchidism, and an 850\u2010kb deletion, within the 10p11.2 region, involving three genes\u2014<jats:italic>MKX<\/jats:italic>, <jats:italic>ARMC4<\/jats:italic>, and <jats:italic>MPP7<\/jats:italic>\u2014as determined by array comparative genomic hybridization analysis. Comparison with four previously reported male patients with overlapping deletions revealed a 140\u2010kb common region, containing the <jats:italic>MKX<\/jats:italic> gene, in association with cryptorchidism. The <jats:italic>MKX<\/jats:italic> gene is a member of the three amino acid loop extension (TALE) superclass of homeobox genes that is expressed in developing male gonads (male gonadal ridge and testis cords) in temporal relationship to <jats:italic>SOX9<\/jats:italic>, a critical regulator of sexual differentiation. Our results suggest that haploinsufficiency of the <jats:italic>MKX<\/jats:italic> gene may affect the developmental process during testis migration or serve as a genetic susceptibility locus for cryptorchidism. We propose that deletions of the proximal 10p represent a contiguous gene syndrome; therefore, patients may present with a complex phenotype, depending on the extent of the deletion. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36627","type":"journal-article","created":{"date-parts":[[2014,7,29]],"date-time":"2014-07-29T18:36:45Z","timestamp":1406659005000},"page":"2623-2626","source":"Crossref","is-referenced-by-count":16,"title":["Interstitial 10p11.23\u2013p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism"],"prefix":"10.1002","volume":"164","author":[{"given":"Henry J.","family":"Mroczkowski","sequence":"first","affiliation":[{"name":"Department of Obstetrics Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgianne","family":"Arnold","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Medical Genetics, University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis X.","family":"Schneck","sequence":"additional","affiliation":[{"name":"Department of Urology University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandar","family":"Rajkovic","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"},{"name":"Department of Pathology University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"},{"name":"Magee\u2010Womens Research Institute Pittsburgh Pennsylvania"},{"name":"Department of Human Genetics University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana A.","family":"Yatsenko","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"},{"name":"Department of Pathology University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,7,29]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.20671"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2013.02.001"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.sempedsurg.2010.04.001"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1000525107"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00207-10"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2011.154"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32088"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dmm027"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.71"}],"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.36627","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36627","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36627","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T20:03:28Z","timestamp":1694721808000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36627"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7,29]]},"references-count":9,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["10.1002\/ajmg.a.36627"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36627","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,7,29]]}}}