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http://dx.doi.org/10.3345/kjp.2009.52.5.603

De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence  

Lee, Soon Min (Department of Pediatrics, Yonsei University College of Medicine)
Park, Min Soo (Department of Pediatrics, Yonsei University College of Medicine)
Park, Kook In (Department of Pediatrics, Yonsei University College of Medicine)
Namgung, Ran (Department of Pediatrics, Yonsei University College of Medicine)
Lee, Chul (Department of Pediatrics, Yonsei University College of Medicine)
Lee, Jin Seong (Department of Clinical Genetics, Yonsei University College of Medicine)
Lee, Kyung A (Department of Laboratory Medicine, Yonsei University College of Medicine)
Choi, Jong-Rak (Department of Laboratory Medicine, Yonsei University College of Medicine)
Publication Information
Clinical and Experimental Pediatrics / v.52, no.5, 2009 , pp. 603-606 More about this Journal
Abstract
The Pierre Robin sequence (PRS) is the nonrandom association of micrognathia, cleft palate, and glossoptosis, leading to respiratory and feeding difficulties that appear neurogenic rather than mechanical in causation. Genetic determinants are thought to underlie this functional and morphological entity, based on the existence of Mendelian syndromes with PRS. Here, we demonstrate the association of PRS with trisomy 8p due to duplication of a segment as the karyotype 46,XX,dup(8)(p21.3p23.1) and confirm the additional materials as chromosome 8 via whole chromosome paint probes. Our observation supports the hypothesis regarding a genetic basis for nonsyndromic PRS, strengthens the possible genetic association with isolated cleft palate, and provides a candidate PRS locus in chromosomal region 8(p21.3p23.1).
Keywords
Duplication; Pierre Robin sequence; Trisomy 8p;
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1 Verma RS, Babu A. Human Chromosomes: Mannual of basic technique. 1st ed. New York: Pergamon Press, 1989:4-51
2 de Die-Smulders CE, Engelen JJ, Schrander-Stumpel CT, Govaerts LC, de Vries B, Vles JS, et al. Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature. Am J Med Genet 1995; 59:369-74   DOI   ScienceOn
3 Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D. A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality-and tolerance of segmental aneuploidy-in humans. Am J Hum Genet 1999;64: 1702-8   DOI   ScienceOn
4 Couly G, Cheron G, de Blic J, Despres C, Cloup M, Hubert P. The Pierre-Robin syndrome. Classification and new therapeutic approach. Arch Fr Pediatr 1988;45:553-9   PUBMED   ScienceOn
5 Bush PG, Williams AJ. Incidence of the Robin anomalad (Pierre Robin syndrome). Br J Plast Surg 1983;36:434-7   DOI   ScienceOn
6 Robin P. Backward lowering of the root of the tongue causing respiratory disturbance. Bull Acad Natl Med 1923;89:37-41
7 Jakobsen LP, Knudsen MA, Lespinasse J, Garc$\acute{i}$a Ayuso C, Ramos C, Fryns JP, et al. The genetic basis of the Pierre Robin Sequence. Cleft Palate Craniofac J 2006;43:155-9   DOI   ScienceOn
8 Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D. A chromosomal deletion map of human malformations. Am J Hum Genet 1998;63:1153-9   DOI   ScienceOn
9 Renault F, Flores-Guevara R, Soupre V, Vazquez MP, Baudon JJ. Neurophysiological brainstem investigations in isolated Pierre Robin sequence. Early Hum Dev 2000;58:141-52   DOI   ScienceOn
10 ISCN 2005. An international system for human cytogenetic nomenclature. Shaffer LG, Tommerup N: Karger, Basel
11 Moog U, Engelen JJ, Albrechts JC, Baars LG, de Die-Smulders CE. Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications. Am J Med Genet 2000; 94:306-10   DOI   ScienceOn