{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T18:31:58Z","timestamp":1761762718073},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4906,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 5\u2010month\u2010old boy with a de novo interstitial deletion of the proximal short arm of chromosome 8 (p21p11.2). He manifested bilateral cleft lip and palate, and apparent hypogonadism. Four previous case reports with similar deletions (p11.1p21) were associated with hypogonadotropic hypogonadism [Beighle et al., Hum Genet 38:113\u2013121, 1977] and hereditary spherocytosis (HS) [Chilcote et al., Blood 6:156\u2013159, 1987; Kitatani et al., Hum Genet 78:94\u201395, 1988; Lux et al., Nature 345:736\u2013739, 1990]. Our patient has no demonstrable red blood cell abnormality, suggesting that the gene for HS is located in the region 8p11.1 to 8p11.2.<\/jats:p>","DOI":"10.1002\/ajmg.1320420105","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:33:06Z","timestamp":1118550786000},"page":"15-18","source":"Crossref","is-referenced-by-count":10,"title":["Deletion of the proximal short arm of chromosome 8"],"prefix":"10.1002","volume":"42","author":[{"given":"Robert F.","family":"Stratton","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David F.","family":"Crudo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Varela","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuel","family":"Shapira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.1.67"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-99-2-192"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295814"},{"key":"e_1_2_1_5_1","first-page":"70","article-title":"Deletion partielle du bras court du chromosome 8","volume":"20","author":"Bresson JL","year":"1977","journal-title":"Ann Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.2.153"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0090-4295(90)80030-Q"},{"key":"e_1_2_1_8_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 RE","year":"1987","journal-title":"Blood"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80673-6"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220114"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291558"},{"key":"e_1_2_1_12_1","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1007\/BF00283508","article-title":"Familial inversion of chromosome no. 8: An affected child and a carrier fetus","volume":"27","author":"Fujimoto A","year":"1975","journal-title":"Humangenetik"},{"key":"e_1_2_1_13_1","first-page":"422","article-title":"Effect of synthetic lutemzing hormone releasing hormone (LH\u2010RH) on the release of gonadotropins in children and adolescents. 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