{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,14]],"date-time":"2024-05-14T15:17:53Z","timestamp":1715699873940},"reference-count":31,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3871,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Pallister\u2010Killian syndrome is a sporadic multiple congenital anomaly syndrome characterized by \u201ccoarse\u201d face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, but tissue cultures show varying degrees of mosaicism for iso\u2010chromosome 12p.<\/jats:p><jats:p>In babies who die neonatally of severe malformations, including diaphragmatic hernia, and who also have a \u201ccoarse\u201d face, acral hypoplasia, and other internal anomalies, Fryns syndrome is more likely to be suspected than Pallister\u2010Killian syndrome, especially if karyotyping is unavailable or if peripheral lymphocytes have a normal chromosome constitution.<\/jats:p><jats:p>An initial diagnosis of Fryns syndrome had to be modified in 3 successive newborn infants since chromosome analysis or in situ hybridization with a chromosome 12 probe on kidney tissue demonstrated the mosaic aneuploidy characteristic of Pallister\u2010Killian syndrome. These 3 patients confirm that a similar pattern of malformations can be present in both conditions at birth. It consists of \u201ccoarse\u201d face, acral hypoplasia, diaphragmatic hernia, and other defects. Newborn infants who present this pheno\u2010type, but lack a conclusively normal chromosome test, may not have Fryns syndrome. A diagnosis of Fryns syndrome should be made carefully to avoid the risk of inappropriate genetic counseling. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320530211","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:44:54Z","timestamp":1118511894000},"page":"176-181","source":"Crossref","is-referenced-by-count":27,"title":["Lethal Pallister\u2010Killian syndrome: Phenotypic similarity with Fryns syndrome"],"prefix":"10.1002","volume":"53","author":[{"given":"Jos\u00e9 Ignacio","family":"Rodr\u00edguez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabel","family":"Garcia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Javier","family":"Alvarez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alicia","family":"Delicado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9","family":"Palacios","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":"10.1002\/ajmg.1320420525"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410205"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340319"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82884-7"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1542\/peds.85.4.499","article-title":"Fryns 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