{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,29]],"date-time":"2025-11-29T16:11:00Z","timestamp":1764432660674,"version":"build-2065373602"},"reference-count":22,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,5]]},"abstract":"<jats:p>A female fetus with the Potter sequence, caused by unilateral renal agenesis and contralateral multicystic renal dysplasia, was found to have a submicroscopic deletion in chromosome 22q11. The only associated anomaly was agenesis of the uterus and oviducts (Von Mayer-Rokitansky-K\u00fcster anomaly). The deletion was inherited from the father, who presented the typical velocardiofacial syndrome phenotype, but no urological anomalies. This observation further extends the clinical spectrum associated with a deletion in 22q11.<\/jats:p>","DOI":"10.1136\/jmg.34.5.423","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"423-425","source":"Crossref","is-referenced-by-count":50,"title":["Chromosome 22q11 deletion presenting as the Potter sequence."],"prefix":"10.1136","volume":"34","author":[{"given":"K","family":"Devriendt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Moerman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Van Schoubroeck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Vandenberghe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J P","family":"Fryns","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1997,5,1]]},"reference":[{"key":"ref_1","first-page":"423","volume":"34","author":"Genet, Med","year":"1997","unstructured":"Med Genet 1997;34:423-425"},{"key":"ref_2","first-page":"818","article-title":"Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker","volume":"30","author":"Wadey, R.; Daw, S.; Wickremasinghe, A.","year":"1993","unstructured":"Wadey R, Daw S, Wickremasinghe A, et al. 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