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Typus
KomplettPlagiat
Bearbeiter
Graf Isolan
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 31, Zeilen: 16-25
Quelle: Katzaki 2009
Seite(n): 70, Zeilen: left col. 20ff
The known 9p deletion syndrome was first described by Alfi et al. in 1973 [15]. This is an heterogeneous condition with variable deletion size characterized by ID, congenital malformations including trigonocephaly, congenital heart defect, anorectal and genital anomalies and dysmorphisms [16-19]. The critical region for the 9p deletion syndrome has been located between bands p22.3 and p24.1 [19]. The deletions of the more terminal part of chromosome 9p are rarer and some of them coexist in the same patient together with larger rearrangements in other chromosomes [20, 14, 21, 22]. Patients with deletions involving the 9p24.3 band show male to female sex reversal, possibly due to DMRT1 and DMRT2 haploinsufficiency [23, 24].

[14] Kohler A, Hain J, Muller U. (1994) Familial half cryptic translocation t(9;17). J Med Genet 31:712-4

[15] Alfi O, Donnell G N, Crandall B F, Derencsenyi A, Menon R. (1973) Deletion of the short arm of chromosome no.9 (46,9p-): a new deletion syndrome. Ann Genet 16:17-22

[16] Christ L A, Crowe C A, Micale M A, Conroy J M, Schwartz S. (1999) Chromosome breakage hotspots and delineation of the critical region for the 9pdeletion syndrome. Am J Hum Genet 65:1387-95

[17] Hauge X, Raca G, Cooper S, May K, Spiro R, Adam M, Martin C L. (2008) Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p. Genet Med 10:599-611

[18] Huret J L, Leonard C, Forestier B, Rethore M O, Lejeune J. (1988) Eleven new cases of del(9p) and features from 80 cases. J Med Genet 25:741-9

[19] Swinkels M E, Simons A, Smeets D F, Vissers L E, Veltman J A, Pfundt R, de Vries B B, Faas B H, Schrander-Stumpel C T, McCann E, Sweeney E, May P, et al. (2008) Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. Am J Med Genet A 146A:1430-8

[20] Brisset S, Kasakyan S, L'Hermine A C, Mairovitz V, Gautier E, Aubry M C, Benkhalifa M, Tachdjian G. (2006) De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency. Prenat Diagn 26:206-13

[21] Repetto G M, Wagstaff J, Korf B R, Knoll J H. (1998) Complex familial rearrangement of chromosome 9p24.3 detected by FISH. Am J Med Genet 76:306-9

[22] Saha K, Lloyd I C, Russell-Eggitt I M, Taylor D S. (2007) Chromosomal abnormalities and glaucoma: a case of congenital glaucoma associated with 9p deletion syndrome. Ophthalmic Genet 28:69-72

[23] Barbaro M, Balsamo A, Anderlid B M, Myhre A G, Gennari M, Nicoletti A, Pittalis M C, Oscarson M, Wedell A. (2009) Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA. Eur J Hum Genet 17:1439-47

[24] Muroya K, Okuyama T, Goishi K, Ogiso Y, Fukuda S, Kameyama J, Sato H, Suzuki Y, Terasaki H, Gomyo H, Wakui K, Fukushima Y, Ogata T. (2000) Sex-determining gene(s) on distal 9p: clinical and molecular studies in six cases. J Clin Endocrinol Metab 85:3094-100

A well known 9p deletion syndrome was first described by Alfi et al. in 1973 [Alfi et al. 1973]. This is an heterogeneous condition with variable deletion size characterized by mental retardation, congenital malformations including trigonocephaly, congenital heart defect, anorectal and genital anomalies and dysmorphisms [Huret et al 1988, Christ et al 1999, Hauge et al 2008, Swinkels et al. 2008]. The critical region for the deletion 9p deletion syndrome has been located between bands p22.3 and p24.1 [Swinkels et al. 2008]. The deletions of the more terminal part of chromosome 9p are rarer and some of them coexist in the same patient together with larger rearrangements in other chromosomes [Saha et al. 2007, Brisset et al. 2006, Repetto et al. 1998]. Patients with deletions involving the 9p24.3 band show male to female sex reversal, possibly due to DMRT1 and DMRT2 haploinsufficiency [Muroya et al. 2000, Barbaro et al. 2009].

---

• Alfi O, Donnell GN, Crandall BF, Derencsenyi A, Menon R. Deletion of the short arm of chomosome no.9 (46,9p-): a new deletion syndrome. Ann Genet. 1973 Mar;16(1):17-22.

• Huret JL, Leonard C, Forestier B, Rethoré MO, Lejeune J. Eleven new cases of del(9p) and features from 80 cases. J Med Genet. 1988 Nov;25(11):741-9.

• Muroya K, Okuyama T, Goishi K, Ogiso Y, Fukuda S, Kameyama J, Sato H, Suzuki Y, Terasaki H, Gomyo H, Wakui K, Fukushima Y, Ogata T. Sex-determining gene(s) on distal 9p: clinical and molecular studies in six cases. J. Clin. Endocr. Metab. 85: 3094-3100, 2000.

• Swinkels ME, Simons A, Smeets DF, Vissers LE, Veltman JA, Pfundt R, de Vries BB, Faas BH, Schrander- Stumpel CT, McCann E, Sweeney E, May P, Draaisma JM, Knoers NV, van Kessel AG, van Ravenswaaij-Arts CM. Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. Am J Med Genet A. 2008 Jun 1;146A(11):1430-8.

Anmerkungen

Nothing has been marked as a citation.

References for Christ et al 1999, Hauge et al 2008, Saha et al. 2007, Brisset et al. 2006, and Barbaro et al. 2009 are missing in Katzaki (2009).

Sichter
(Graf Isolan) Singulus

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