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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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Statistik und Sichtungsnachweis dieser Seite findet sich am Artikelende
[1.] Mmu/Fragment 015 02 - Diskussion
Zuletzt bearbeitet: 2014-12-22 15:35:22 Hindemith
Fragment, Gesichtet, KomplettPlagiat, Mmu, Roos et al 2009, SMWFragment, Schutzlevel sysop

Typus
KomplettPlagiat
Bearbeiter
Graf Isolan
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Untersuchte Arbeit:
Seite: 15, Zeilen: 2-20
Quelle: Roos et al 2009
Seite(n): 703, Zeilen: left col. 39-50 - right col. 1-16
1.6 Reciprocal duplication of the Miller-Dieker region.

The short arm of chromosome 17 is particularly prone to submicroscopical rearrangements due to a high density of low copy repeats. Thus, the proximal 17p region harbours regions with microdeletion and reciprocal microduplication syndromes, each caused by non-allelic homologous recombination: CMT1A (Charcot–Marie–Tooth syndrome type 1A) (MIM#118220), due to a duplication at 17p11.2; HNPP (hereditary neuropathy with liability to pressure palsies) (MIM#162500), due to a reciprocal deletion, Smith–Magenis syndrome (MIM#182290), caused by a deletion at 17p11.2; and the relatively recently described Potocki–Lupski syndrome (MIM#610883), due to a reciprocal duplication at 17p11.2 (Stankiewicz 2003; Potocki 2000). Deletions in the more distal region 17p13.3, including the PAFAH1B1 gene (encoding LIS1), result in the brain malformation lissencephaly, with reduced gyration of the cerebral surface and increased cortical thickening. Depending on the size of the deletion, the phenotype varies from isolated lissencephaly (ILS) (MIM#607432) to Miller–Dieker syndrome (MDS) (MIM#247200); the latter consists of severe grade ILS and additional characteristic dysmorphic features and malformations (Dobyns 1993). Deletions in MDS vary in size, from 0.1 to 2.9 Mb. The critical region differentiating ILS from MDS is approximately 400 Kb, and is referred to as the ‘‘MDS telemetric [sic] critical region’’ (Cardoso et al, 2003).


15. Cardoso C, et al. Refinement of a 400-kb critical region allows genotypoical differantiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet 2003;72:918–30.

20. Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA 1993;270:2838–42.

61. Potocki L, et al. Molecular mechanism for duplication 17p11.2-the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 2000;24:84–7.

76. Stankiewicz P, et al. Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet 2003;72:1101–16.

The short arm of chromosome 17 is particularly prone to submicroscopical rearrangements due to a high density of low copy repeats. Thus, the proximal 17p region harbours regions with microdeletion and reciprocal microduplication syndromes, each caused by non-allelic homologous recombination: CMT1A (Charcot–Marie–Tooth syndrome type 1A), due to a duplication at 17p11.2; HNPP (hereditary neuropathy with liability to pressure palsies), due to a reciprocal deletion, Smith–Magenis syndrome, caused by a deletion at 17p11.2; and the relatively recently described Potocki–Lupski syndrome, due to a reciprocal duplication at 17p11.2.1 2

Deletions in the more distal region 17p13.3, including the PAFAH1B1 gene (encoding LIS1), result in the brain malformation lissencephaly, with reduced gyration of the cerebral surface and increased cortical thickening. Depending on the size of the deletion, the phenotype varies from isolated lissencephaly (ILS) to Miller–Dieker syndrome (MDS); the latter consists of severe grade ILS and additional characteristic dysmorphic features and malformations.3 Deletions in MDS vary in size, from 0.1 to 2.9 Mb. The critical region differentiating ILS from MDS is approximately 400 Kb, and is referred to as the ‘‘MDS telemeric critical region’’.4


1. Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park SS, Lupski JR. Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet 2003;72:1101–16.

2. Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meshino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. Molecular mechanism for duplication 17p11.2-the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 2000;24:84–7.

3. Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH. Lissencephaly. A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA;270:2838–42.

4. Cardoso C, Leventer RJ, Ward HL, Toyo-oko K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirosune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH. Refinement of a 400-kb critical region allows genotypoical differantiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet 2003;72:918–30.

Anmerkungen

Although nearly identical nothing has been marked as a citation.

Sichter
(Graf Isolan), SleepyHollow02


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