{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T11:08:23Z","timestamp":1791198503410,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,2,13]],"date-time":"2002-02-13T00:00:00Z","timestamp":1013558400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe the hitherto smallest interstitial 8p11.2 deletion in a patient with congenital spherocytosis, dysmorphic features, and growth delay in association with hypogonadotropic hypogonadism and anosmia. The latter features are characteristic for Kallmann syndrome. In contrast to the previously reported patients with 8p deletions, the present patient showed normal intelligence. Congenital spherocytosis is one of the most common hereditary hemolytic anemias. One of the three loci for congenital spherocytosis was assigned to chromosome 8p (located between 8p11.1 and 8p21) and mutations in or loss of the ankyrin\u20101 gene (<jats:italic>ANK1<\/jats:italic>) were identified. Molecular analysis confirmed the de novo loss of <jats:italic>ANK1<\/jats:italic> in our patient. Kallmann syndrome, which is characterized by hypogonadotropic hypogonadism and anosmia, can be X\u2010linked, autosomal dominant, or autosomal recessive. So far only the X\u2010linked <jats:italic>KAL1<\/jats:italic> gene has been identified. The present finding suggests an autosomal locus for Kallmann syndrome at 8p11.2. The simultaneous occurrence of congenital spherocytosis, Kallmann syndrome phenotype, dysmorphic features, and growth delay in this patient points to a new contiguous gene syndrome. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10295","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:09:26Z","timestamp":1030316966000},"page":"315-318","source":"Crossref","is-referenced-by-count":37,"title":["Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion"],"prefix":"10.1002","volume":"108","author":[{"given":"Stefan","family":"Vermeulen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludwine","family":"Messiaen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Scheir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"De Bie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Speleman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"De Paepe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,2,13]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-2264(199807)22:3<186::AID-GCC4>3.0.CO;2-S"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.24.10001"},{"key":"e_1_2_4_4_1","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1182\/blood.V69.1.156.156","article-title":"Association of red cell spherocytosis with deletion of the short arm of chromosome 8","volume":"69","author":"Chilcote RR","year":"1987","journal-title":"Blood"},{"key":"e_1_2_4_5_1","first-page":"1857","article-title":"Fertilization defects in sperm from mice lacking fertilin \u03b2","volume":"281","author":"Cho C","year":"1998","journal-title":"Nature"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1991.tb04425.x"},{"key":"e_1_2_4_7_1","first-page":"267","article-title":"Loss of function mutations of the GnRH receptor: a new cause of hypogonadotropic hypogonadism","volume":"12","author":"de Roux N","year":"1999","journal-title":"J Pediatr Endocrinol Metab"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0696-214"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291244"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0188-4409(99)00072-7"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-14"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/345736a0"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3024317"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3097822"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000472167"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580306"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.19.5.521"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01560732"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10295","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10295","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T18:50:30Z","timestamp":1697482230000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10295"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,2,13]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,4]]}},"alternative-id":["10.1002\/ajmg.10295"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10295","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,2,13]]}}}