{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:10Z","timestamp":1761717970313},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T00:00:00Z","timestamp":1116201600000},"content-version":"vor","delay-in-days":3535,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,9,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a 30\u2010month\u2010old boy with multiple anomalies and mental retardation with hereditary spherocytic anemia. His karyotype was 46,XY,del(8)(p11.23p21.1). Genes for ankyrin and glutathione reductase (GSR) were localized to chromosome areas 8p11.2 and 8p21.1, respectively. Six patients with spherocytic anemia and interstitial deletion of 8p\u2013 have been reported. In these patients, severe mental retardation and multiple anomalies are common findings. This is a new contiguous gene syndrome. Lux et al. [1990: Nature 345:736\u2013739] established that ankyrin deficiency and associated deficiencies of spectrin and protein 4.2 were responsible for spherocytosis in this syndrome. We reviewed the manifestations of this syndrome. Patients with spherocytic anemia and multiple congenital anomalies should be investigated by high\u2010resolution chromosomal means to differentiate this syndrome. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320580306","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:08:26Z","timestamp":1118513306000},"page":"225-229","source":"Crossref","is-referenced-by-count":21,"title":["Hereditary spherocytic anemia with deletion of the short arm of chromosome 8"],"prefix":"10.1002","volume":"58","author":[{"given":"Nobuhiko","family":"Okamoto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshinao","family":"Wada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoich","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masahiro","family":"Nakayama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideaki","family":"Chiyo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kikuno","family":"Murayama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takahumi","family":"Inoue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akio","family":"Kanzaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshihito","family":"Yawata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Hirono","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiro","family":"Miwa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-99-2-192"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"1846","DOI":"10.1182\/blood.V79.7.1846.1846","article-title":"An alanine\u2010to\u2010threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2 Nippon)","volume":"49","author":"Bouhassira EE","year":"1992","journal-title":"Blood"},{"key":"e_1_2_1_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_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1991.tb04425.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199010113231507"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220114"},{"key":"e_1_2_1_8_1","first-page":"308","article-title":"Discovery of 8 ankyrin mutations in hereditary spherocytosis (HS) indicates that ankyrin defects are a major cause of dominant and recessive 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