Cuadrado Martín M, Boldova Aguar C, Carrasco Lorente S, Martínez Laborda S, J López-Pisón, Baldellou Vázquez A, Labarta Aizpún J, Marco Tello A, Rebage Moisés V
{"title":"(染色体r(13)。报告一例新病例]。","authors":"Cuadrado Martín M, Boldova Aguar C, Carrasco Lorente S, Martínez Laborda S, J López-Pisón, Baldellou Vázquez A, Labarta Aizpún J, Marco Tello A, Rebage Moisés V","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>We report a new case of monosomy r13 in a male newborn infant with prenatal diagnosis. He was the fourth child of a healthy couple of normal lineage. On physical examination typical dysmorphism and multiple congenital anomalies were found. Chromosome analysis revealed a 46, XY, r(13) (p11.2q32) /45, XY,13 karyotype. Our observations are almost identical to those of previously published reports and confirm that the clinical severity of the symptoms depends on the location of the chromosome breakpoint. The clinical and cytogenetics features of this disorder are reviewed.</p>","PeriodicalId":7778,"journal":{"name":"Anales Espanoles De Pediatria","volume":"53 6","pages":"592-5"},"PeriodicalIF":0.0000,"publicationDate":"2000-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Monosomy r(13). Report of a new case].\",\"authors\":\"Cuadrado Martín M, Boldova Aguar C, Carrasco Lorente S, Martínez Laborda S, J López-Pisón, Baldellou Vázquez A, Labarta Aizpún J, Marco Tello A, Rebage Moisés V\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>We report a new case of monosomy r13 in a male newborn infant with prenatal diagnosis. He was the fourth child of a healthy couple of normal lineage. On physical examination typical dysmorphism and multiple congenital anomalies were found. Chromosome analysis revealed a 46, XY, r(13) (p11.2q32) /45, XY,13 karyotype. Our observations are almost identical to those of previously published reports and confirm that the clinical severity of the symptoms depends on the location of the chromosome breakpoint. The clinical and cytogenetics features of this disorder are reviewed.</p>\",\"PeriodicalId\":7778,\"journal\":{\"name\":\"Anales Espanoles De Pediatria\",\"volume\":\"53 6\",\"pages\":\"592-5\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2000-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Anales Espanoles De Pediatria\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Anales Espanoles De Pediatria","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
We report a new case of monosomy r13 in a male newborn infant with prenatal diagnosis. He was the fourth child of a healthy couple of normal lineage. On physical examination typical dysmorphism and multiple congenital anomalies were found. Chromosome analysis revealed a 46, XY, r(13) (p11.2q32) /45, XY,13 karyotype. Our observations are almost identical to those of previously published reports and confirm that the clinical severity of the symptoms depends on the location of the chromosome breakpoint. The clinical and cytogenetics features of this disorder are reviewed.
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