{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:34:46Z","timestamp":1760729686644},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,4]],"date-time":"2005-06-04T00:00:00Z","timestamp":1117843200000},"content-version":"vor","delay-in-days":6821,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1986,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 14\u2010year\u2010old severely retarded male with deletion of chromosomal band 7 cen \u2192 q112 is described.<\/jats:p><jats:p>Clinical features include short stature, microcephaly, unusual facies with narrow forehead, short nose, malar hypoplasia, protruding alveolar ridges and incisors, receding chin, relatively long philtrum, and large ears. In addition, he had bilateral inguinal herniae cryptorchidism with hypogonadism, pulmonic stenosis, and spastic quadriplegia.<\/jats:p><jats:p>Normal activity of beta\u2010glucuronidase was found in the patient's leukocytes. This finding suggests that the gene is not in the deleted region, narrowing the smallest region of overlap to 7q112 \u2192 q22.<\/jats:p>","DOI":"10.1002\/ajmg.1320250208","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:09:08Z","timestamp":1118520548000},"page":"245-249","source":"Crossref","is-referenced-by-count":17,"title":["Interstitial 7q deletion [46,XY,del (7) (pter \u2192 cen::q112 \u2192 qter)] in a retarded quadriplegic boy with normal beta glucuronidase"],"prefix":"10.1002","volume":"25","author":[{"given":"Moshe","family":"Frydman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Steinberger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fiorella","family":"Shabtai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reuben","family":"Steinherz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274695"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01442.x"},{"key":"e_1_2_1_4_1","first-page":"969","article-title":"\u03b2\u2010glucuronidase deficiency mucopolysaccharidosis: Methods for enzymatic diagnosis","volume":"82","author":"Glaser JH","year":"1973","journal-title":"J Lab Clin Med"},{"key":"e_1_2_1_5_1","doi-asserted-by":"crossref","unstructured":"GrzeschikKH(1976): Assignment of human genes: \u03b2\u2010glucuronidase to chromosome 7 adenylate kinase\u2010 1 to 9 a second enzyme with enolase activity to 12 and mitochondrial IDH to 15. In Baltimore Conference (1975): Third international workshop on human gene mapping. Birth Defects XII(7):142\u2013148.","DOI":"10.1159\/000130576"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.151"},{"key":"e_1_2_1_7_1","unstructured":"LalleyPA BrownJA EddyRL HaleyLL ShowsTB(1976): Assignment of a gene for \u03b2\u2010glucuronidase (GUS) to chromosome 7 in man. In Baltimore Conference (1975): Third international workshop on human gene mapping. Birth Defects XII(7):184\u2013187."},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000131398"},{"key":"e_1_2_1_9_1","first-page":"45","article-title":"Interstitial deletion of a chromosome 7 (qll.2q22.1) in a child with splithand\/ splitfoot malformation","volume":"27","author":"Pfeiffer RA","year":"1984","journal-title":"Ann Genet"},{"key":"e_1_2_1_10_1","first-page":"41","volume-title":"New Chromosomal Syndromes","author":"Sanchez O","year":"1977"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283642"},{"key":"e_1_2_1_12_1","unstructured":"ValentineH SergovichF(1977):A syndrome associated with interstitial deletion of chromosome 7q. 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