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New insights into the pathogenic mechanisms associated with CNVs: duplication of 17p13.3, mirror effect in 16p11.2 and recessive phenotype in 22q11.22

von Dott. Mafalda Mucciolo

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[1.] Mmu/Fragment 031 03 - Diskussion
Zuletzt bearbeitet: 2014-12-22 15:35:56 Hindemith
BauernOpfer, Bruno et al 2010, Fragment, Gesichtet, Mmu, SMWFragment, Schutzlevel sysop

Typus
BauernOpfer
Bearbeiter
Graf Isolan
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 31, Zeilen: 3-12
Quelle: Bruno et al 2010
Seite(n): 307, Zeilen: left col. 47-61
Bruno and colleagues identified two classes of co-locating microduplications in 17p13.3: class I duplications including YWHAE but not PAFAH1B1; and class II duplications always including PAFAH1B1, and sometimes including the genomic region encompassing the CRK and YWHAE genes [11]. Class I microduplications are associated with intellectual disability (ID), subtle dysmorphic facial features, subtle hand/foot malformations, and a tendency toward postnatal overgrowth [11]. Class II microduplications recently have been shown to be associated with mild to moderate ID and hypotonia. Some dysmorphic features, such as prominent forehead and pointed chin, are shared with class I duplications, while overgrowth, behavioural problems and hand/foot abnormalities are less often noted.

[11] Bruno D L, Anderlid B M, Lindstrand A, van Ravenswaaij-Arts C, Ganesamoorthy D, Lundin J, Martin C L, Douglas J, Nowak C, Adam M P, Kooy R F, Van der Aa N, et al. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes. J Med Genet 47:299-311

We suggest that there are two classes of co-locating microduplications in 17p13.3. Class I duplications (six cases) involve YWHAE (encoding 14-3-3e), but notably not PAFAH1B1.12 Class II duplications (seven cases) always involve PAFAH1B1 and may also include the genomic region encompassing the CRK and YWHAE genes.12 14 Class I show autistic manifestations and other behavioural symptoms, speech and motor delay, subtle dysmorphic facial features, subtle hand/foot malformations, and a tendency to postnatal overgrowth (table 2). Class II microduplications have recently been shown to be associated with moderate to mild developmental and psychomotor delay and hypotonia. Some dysmorphic features, such as prominent forehead and pointed chin, are shared with the class I duplications, while overgrowth, behavioural problems and hand/foot abnormalities are less often noted (table 3).

12. Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O. Increased LIS1 expression affects human and mouse brain development. Nat Genet 2009;41:168e77.

14. Roos L, Jonch AE, Kjaergaard S, Taudorf K, Simonsen H, Hamborg-Petersen B, Brondum-Nielsen K, Kirchhoff M. A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome. J Med Genet 2009;46:703e10.

Anmerkungen

Although in most parts identical nothing has been marked as a citation.

Sichter
(Graf Isolan), SleepyHollow02

[2.] Mmu/Fragment 031 16 - Diskussion
Zuletzt bearbeitet: 2014-12-17 18:25:50 Singulus
Fragment, Gesichtet, Katzaki 2009, KomplettPlagiat, Mmu, SMWFragment, Schutzlevel sysop

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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