{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T23:05:27Z","timestamp":1774047927359,"version":"3.50.1"},"reference-count":20,"publisher":"Archives of Pathology and Laboratory Medicine","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2004,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We describe the case of a 36-week gestational-age male stillborn with bilateral renal agenesis and a 47,XXY karyotype, as well as features of Potter sequence. No other congenital abnormalities were noted. Severe oligohydramnios was diagnosed prenatally at 30 weeks, and cytogenetic analysis was performed postmortem. Urinary tract anomalies are uncommon in association with Klinefelter syndrome. Unilateral renal agenesis has been described. We describe, to our knowledge, the first case of bilateral renal agenesis in association with 47,XXY.<\/jats:p>","DOI":"10.5858\/2004-128-e44-xwabra","type":"journal-article","created":{"date-parts":[[2021,2,10]],"date-time":"2021-02-10T16:38:35Z","timestamp":1612975115000},"page":"e44-e45","source":"Crossref","is-referenced-by-count":9,"title":["47,XXY With Associated Bilateral Renal Agenesis"],"prefix":"10.5858","volume":"128","author":[{"given":"Julieta E.","family":"Barroeta","sequence":"first","affiliation":[{"name":"From the Pathology Department, Pennsylvania Hospital, Philadelphia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary A.","family":"Stopyra","sequence":"additional","affiliation":[{"name":"From the Pathology Department, Pennsylvania Hospital, Philadelphia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3906","reference":[{"key":"i1543-2165-128-3-e44-b1","series-title":"Am J Perinatol","first-page":"184","article-title":"Unilateral renal hypoplasia and contralateral renal agenesis: a new association with 45, X\/46, XY mosaicism.","volume":"11","author":"Wax, J. R.","year":"1994","unstructured":"Wax, J. R., G.Prabhakar, R. A.Giraldez, G. M.Hutchins, G.Stetten, and K. J.Blakemore. Unilateral renal hypoplasia and contralateral renal agenesis: a new association with 45, X\/46, XY mosaicism.Am J Perinatol1994. 11:184\u2013186."},{"key":"i1543-2165-128-3-e44-b2","series-title":"Humangenetik","first-page":"1","article-title":"Malformations of kidney and urinary tract in common chromosomal aberrations, I: clinical studies [review].","volume":"18","author":"Egli, F.","year":"1973","unstructured":"Egli, F. and G.Stalder. Malformations of kidney and urinary tract in common chromosomal aberrations, I: clinical studies [review].Humangenetik1973. 18:1\u201315."},{"key":"i1543-2165-128-3-e44-b3","series-title":"Ann Genet","first-page":"44","article-title":"Renal agenesis and trisomy 22: case report and review.","volume":"38","author":"Van Buggenhout, G. J.","year":"1995","unstructured":"Van Buggenhout, G. J., J.Verbruggen, and J. P.Fryns. Renal agenesis and trisomy 22: case report and review.Ann Genet1995. 38:44\u201348."},{"key":"i1543-2165-128-3-e44-b4","series-title":"Birth Defects Orig Artic Ser","first-page":"261","article-title":"Summary of clinical findings: profiles of children with 47,XXY, 47,XXX and 47,XYY karyotypes.","volume":"15","author":"Robinson, A.","year":"1979","unstructured":"Robinson, A., H. A.Lubs, J.Nielsen, and K.Sorensen. Summary of clinical findings: profiles of children with 47,XXY, 47,XXX and 47,XYY karyotypes.Birth Defects Orig Artic Ser1979. 15:261\u2013266."},{"key":"i1543-2165-128-3-e44-b5","series-title":"Z Kinderheilk","first-page":"111","article-title":"Familial bilateral renal agenesis and hereditary renal adysplasia.","volume":"115","author":"Buchta, R. M.","year":"1973","unstructured":"Buchta, R. M., C.Viseskul, E. F.Gilbert, G. E.Sarto, and J. M.Opitz. Familial bilateral renal agenesis and hereditary renal adysplasia.Z Kinderheilk1973. 115:111\u2013129."},{"key":"i1543-2165-128-3-e44-b6","series-title":"Case Rep Clin Pract Rev","first-page":"57","article-title":"Association of unilateral renal agenesis and genital anomalies.","volume":"3","author":"Barakat, A. J.","year":"2002","unstructured":"Barakat, A. J.\n          \n          Association of unilateral renal agenesis and genital anomalies.\n          Case Rep Clin Pract Rev\n          2002. 3:57\u201360."},{"key":"i1543-2165-128-3-e44-b7","series-title":"Am J Med Genet","first-page":"153","article-title":"Renal agenesis in British Columbia.","volume":"21","author":"Wilson, R. D.","year":"1985","unstructured":"Wilson, R. D. and P. A.Baird. Renal agenesis in British Columbia.Am J Med Genet1985. 21:153\u2013169."},{"key":"i1543-2165-128-3-e44-b8","series-title":"Hum Reprod","first-page":"282","article-title":"Unilateral renal agenesis associated with congenital bilateral absence of vas deferens: phenotypic findings and genetic considerations.","volume":"16","author":"McCallum, T. J.","year":"2001","unstructured":"McCallum, T. J., J. M.Milunsky, R.Munarriz, R.Carson, H.Sadeghi-Nejad, and R. D.Oates. Unilateral renal agenesis associated with congenital bilateral absence of vas deferens: phenotypic findings and genetic considerations.Hum Reprod2001. 16:282\u2013288."},{"key":"i1543-2165-128-3-e44-b9","series-title":"Rev Med-Chir Soc Med Nat Iasi","first-page":"747","article-title":"Sindrom Klinefelter asociat cu situs inversus total si malformatie renala.","volume":"75","author":"Tirnoveanu, G.","year":"1971","unstructured":"Tirnoveanu, G., T.Selaru, M. I.Georgescu, V.Frangulea, and G.Mitescu. Sindrom Klinefelter asociat cu situs inversus total si malformatie renala.Rev Med-Chir Soc Med Nat Iasi1971. 75:747\u2013750."},{"key":"i1543-2165-128-3-e44-b10","series-title":"Mol Med","first-page":"597","article-title":"Klinefelter's syndrome in a boy with severe somatic and genital abnormalities: case report.","volume":"74","author":"Srivastava, P. K.","year":"1977","unstructured":"Srivastava, P. K., B.Brothinard, J. P.Myers, and W. B.Bradley. Klinefelter's syndrome in a boy with severe somatic and genital abnormalities: case report.Mol Med1977. 74:597\u2013598."},{"key":"i1543-2165-128-3-e44-b1","series-title":"Am J Perinatol","first-page":"184","article-title":"Unilateral renal hypoplasia and contralateral renal agenesis: a new association with 45, X\/46, XY mosaicism.","volume":"11","author":"Wax, J. R.","year":"1994","unstructured":"Wax, J. R., G.Prabhakar, R. A.Giraldez, G. M.Hutchins, G.Stetten, and K. J.Blakemore. 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Renal agenesis and trisomy 22: case report and review.Ann Genet1995. 38:44\u201348."},{"key":"i1543-2165-128-3-e44-b4","series-title":"Birth Defects Orig Artic Ser","first-page":"261","article-title":"Summary of clinical findings: profiles of children with 47,XXY, 47,XXX and 47,XYY karyotypes.","volume":"15","author":"Robinson, A.","year":"1979","unstructured":"Robinson, A., H. A.Lubs, J.Nielsen, and K.Sorensen. Summary of clinical findings: profiles of children with 47,XXY, 47,XXX and 47,XYY karyotypes.Birth Defects Orig Artic Ser1979. 15:261\u2013266."},{"key":"i1543-2165-128-3-e44-b5","series-title":"Z Kinderheilk","first-page":"111","article-title":"Familial bilateral renal agenesis and hereditary renal adysplasia.","volume":"115","author":"Buchta, R. M.","year":"1973","unstructured":"Buchta, R. M., C.Viseskul, E. F.Gilbert, G. E.Sarto, and J. M.Opitz. 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Sindrom Klinefelter asociat cu situs inversus total si malformatie renala.Rev Med-Chir Soc Med Nat Iasi1971. 75:747\u2013750."},{"key":"i1543-2165-128-3-e44-b10","series-title":"Mol Med","first-page":"597","article-title":"Klinefelter's syndrome in a boy with severe somatic and genital abnormalities: case report.","volume":"74","author":"Srivastava, P. K.","year":"1977","unstructured":"Srivastava, P. K., B.Brothinard, J. P.Myers, and W. B.Bradley. 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