{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T11:10:32Z","timestamp":1790161832799,"version":"4.1.0"},"reference-count":52,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2007,4,12]],"date-time":"2007-04-12T00:00:00Z","timestamp":1176336000000},"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":[[2007,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe our findings in a 46,XY female with a clinical features of Genitopatellar syndrome (GPS) and confirmed hermaphroditism with ovotestes, and five additional patients with GPS. GPS is a genetic disorder characterized by renal and genital anomalies, joint dislocation, aplastic or hypoplastic and often displaced patellae, minor facial anomalies, and mental retardation. The genital anomalies clearly distinguish GPS from nail\u2010patella syndrome (NPS) that has similar features, but additionally shows hypoplastic finger\u2010 and toenails as found in the 46,XY female. In our patients no mutation was found in the coding regions of <jats:italic>WNT4<\/jats:italic>, <jats:italic>WNT7A<\/jats:italic>, <jats:italic>TBX4<\/jats:italic>, and <jats:italic>LMX1B<\/jats:italic>. Fluorescent in situ hybridization (FISH) and array\u2010based comparative genome hybridization (aCGH) analysis showed a 3 Mb deletion <jats:italic>of LMX1B<\/jats:italic>, <jats:italic>NR6A1<\/jats:italic>, and <jats:italic>NR5A1<\/jats:italic> (<jats:italic>SF1<\/jats:italic>) in the 46,XY female. This is the first report of a microdeletion causing haploinsuffiency of <jats:italic>LMX1B<\/jats:italic> and <jats:italic>NR5A1<\/jats:italic>. The deletion of <jats:italic>LMX1B<\/jats:italic> is responsible for the knee anomalies and the deletion of <jats:italic>NR5A1<\/jats:italic> likely causes the sex reversal. Cytogenetic analysis of the five additional patients with diagnosed GPS failed to identify a similar microdeletion, or inversion of a potentially regulatory element between the two genes. This suggests that the locus 9q33\u20109q34 can be excluded for GPS and that the presented case is unique in its combination of GPS and NPS features caused by a microdeletion associated with loss of function of <jats:italic>LMX1B<\/jats:italic> and <jats:italic>NR5A1<\/jats:italic>. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31685","type":"journal-article","created":{"date-parts":[[2007,4,13]],"date-time":"2007-04-13T00:48:24Z","timestamp":1176425304000},"page":"1071-1081","source":"Crossref","is-referenced-by-count":39,"title":["Ovotestes and XY sex reversal in a female with an interstitial <i>9q33.3\u2010q34.1<\/i> deletion encompassing <i>NR5A1<\/i> and <i>LMX1B<\/i> causing features of genitopatellar syndrome"],"prefix":"10.1002","volume":"143A","author":[{"given":"Silke","family":"Schlaubitz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana 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