{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,19]],"date-time":"2023-11-19T12:41:53Z","timestamp":1700397713253},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,4]],"date-time":"2005-06-04T00:00:00Z","timestamp":1117843200000},"content-version":"vor","delay-in-days":6729,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>An abnormality of chromosome 16 in an eight year\u2010old male was associated with a multiple congenital anomalies syndrome characterized by myopathy, cataracts, blepharophimosis, microcephaly, failure to grow, profound mental retardation, moderate sensorineural hearing loss, grand mal seizures, bilateral inguinal hernia, and thoracolumbar kyphoscoliosis. Magnetic resonance imaging of the head demonstrated absence of the corpus callosum and extensive loss of brain parenchyma in the occipital regions. Chromosome analysis from peripheral blood of the patient showed a rccombinant chromosome 16 [46, XY, rec (16), dup (p13.1 \u2192 p13.3) del (q22 \u2192 q24)]. The mother had a pericentric inversion of chromosome 16 [46, XX, inv(16) (p13.1;q22)]. Independent recombinant DNA studies have shown that the breakpoints of these chromosomal rearrangements flank the \u03b1\u2010globin gene cluster locus.<\/jats:p>","DOI":"10.1002\/ajmg.1320260128","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:45:18Z","timestamp":1118544318000},"page":"189-194","source":"Crossref","is-referenced-by-count":14,"title":["Multiple congenital anomalies syndrome with myopathy in chromosome 16 abnormality"],"prefix":"10.1002","volume":"26","author":[{"given":"Victor","family":"Ionasescu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shivanand","family":"Patil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Hart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William","family":"Rhead","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wilbur","family":"Smith","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":"10.1136\/jmg.7.2.118"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.6.483"},{"key":"e_1_2_1_4_1","first-page":"282","article-title":"Chromosome anomalies as a cause of spontaneous abortion","volume":"97","author":"Carr DH","year":"1967","journal-title":"Am J Obstet Gynecol"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140114"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00296145"},{"key":"e_1_2_1_7_1","first-page":"1","article-title":"\u201cDe novo\u201d trisomy 16q pter","volume":"49","author":"Dallapicola H","year":"1979","journal-title":"Hum Genet"},{"key":"e_1_2_1_8_1","first-page":"171","article-title":"Partial trisomy for the long arm of chromosome 16:46. 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