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Unusual findings included congenital paralysis of some cranial nerves in both patients and malignant melanoma in the proposita. Cultured lymphocytes from both patients, and skin fibroblasts, Esptein Barr virus\u2010transformed lymphocytes, and tumor cells from the proposita demonstrated premature separation of centromeric heterochromatin (PCS) of many chromosomes, a finding noted previously in the SC phocomelia syndrome and the similar but more severe Roberts syndrome.<\/jats:p><jats:p>Extensive overlap of the phenotypes of the sisters and 15 other patients with either syndrome and PCS confirms that these are either allelic conditions or the same disease\u2014designated Roberts\u2010SC phocomelia syndrome. The role of PCS in the syndrome(s) remains uncertain since some patients with the characteristic clinical phenotypes are reported to lack it.<\/jats:p>","DOI":"10.1002\/ajmg.1320240410","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:06:12Z","timestamp":1118520372000},"page":"653-672","source":"Crossref","is-referenced-by-count":43,"title":["SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma"],"prefix":"10.1002","volume":"24","author":[{"given":"Dilys M.","family":"Parry","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John J.","family":"Mulvihill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shien","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muriel I.","family":"Kaiser\u2010Kupfer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet M.","family":"Cowan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V27.6.771.771"},{"key":"e_1_2_1_3_1","first-page":"351","article-title":"A case of SC\u2010phocomelia syndrome with nonrandom centromere separation","volume":"104","author":"B\u00f6kesoy I","year":"1982","journal-title":"Prog Clin Biol Res"},{"key":"e_1_2_1_4_1","first-page":"249","article-title":"Altered sensitivity to colchicine and PHA in human cultured cells","volume":"53","author":"Chalma Y","year":"1980","journal-title":"Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291339"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.17.120183.000405"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1975.tb00631.x"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1974.tb01652.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273512"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb01354.x"},{"key":"e_1_2_1_11_1","first-page":"229","article-title":"S\u00edndrome de hipomelia, hipotricosis y hemangioma facial (S\u00edndrome pseudothalidom\u00eddico)","volume":"17","author":"G\u00f3mez MR","year":"1982","journal-title":"An Esp Pediatr"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284811"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1972.02110120126020"},{"key":"e_1_2_1_14_1","first-page":"275","article-title":"Cytogenetic observations in pernicious anemia and folic acid deficiency","volume":"13","author":"Health CW","year":"1965","journal-title":"Clin Res"},{"key":"e_1_2_1_15_1","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1182\/blood.V27.6.800.800","article-title":"Cytogenetic observation in vitamin B12 and folate deficiency","volume":"27","author":"Health CW","year":"1966","journal-title":"Blood"},{"key":"e_1_2_1_16_1","volume-title":"A familial dysmorphogenetic syndrome of limb deformities, characteristic facial apperarance and associated anomalies: The \u201cpseudothalidomide\u201d or SC\u2010syndrome","author":"Herrmann J","year":"1969"},{"issue":"2","key":"e_1_2_1_16_2","first-page":"81","author":"The National Foundation\u2013March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00489985"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00445030"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01599.x"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.5694\/j.1326-5377.1973.tb128828.x"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1976.tb03693.x"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00286860"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V34.4.452.452"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00569225"},{"key":"e_1_2_1_25_1","first-page":"313","article-title":"(1972: Malformations graves des membres et olgophrenie dans une famille (avec \u00e9tudes chromosomiques)","volume":"19","author":"Levy M","journal-title":"Ann Pediatr"},{"key":"e_1_2_1_26_1","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1111\/j.1399-0004.1981.tb00671.x","article-title":"Roberts' syndrome. 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