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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 071 03 - Diskussion
Zuletzt bearbeitet: 2016-02-07 14:57:40 Hindemith
Fragment, Gesichtet, KomplettPlagiat, Mmu, Philip Bassett 2011, SMWFragment, Schutzlevel sysop

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Introduction

Microdeletion of chromosome 22q11.2 or 22q11.2 deletion syndrome (22q11.2DS) (MIM#188400/#192430) is the most common human deletion syndrome with an estimated prevalence of 1 in 4,000 live births (Goodship 1998). Up to 93% of cases occurs [sic] de novo, whereas in the remaining 7% the deletion is found to be inherited from a parent.


11. Goodship J, Cross I, LiLing J, Wren C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child. 1998; 79:348–351.

Introduction

Microdeletion of chromosome 22q11.2 or 22q11.2 deletion syndrome (22q11.2DS) (MIM#188400/#192430) is the most common human deletion syndrome with an estimated prevalence of 1 in 4,000 live births (Goodship et al. 1998).

[page 2]

Up to 93% of cases occur de novo, whereas in the remaining 7% the deletion is found to be inherited from a parent.

Anmerkungen

The source is not given.

Goodship et al. (1998) does not contain the parallel text.

Sichter
(SleepyHollow02), Hindemith

[2.] Mmu/Fragment 071 20 - Diskussion
Zuletzt bearbeitet: 2016-02-07 14:58:37 Hindemith
Fragment, Gesichtet, KomplettPlagiat, Mmu, Philip Bassett 2011, SMWFragment, Schutzlevel sysop

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Some smaller or atypical deletions have been reported but there is no evidence for specific genotype–phenotype correlations. It has been argued that the 1.5Mb deletions contain all key genes responsible for the syndrome (Carlson et al., 1997).

The phenotypic spectrum encompasses several previously described syndromes including DiGeorge, velocardiofacial and conotruncal anomaly face syndromes as well as some individuals with other conditions such as Cayler cardiofacial syndrome. The phenotypic expression of the 22q11.2DS is known to be highly variable and ranges from a severe life-threatening condition to affected individuals with few associated features (Bassett et al. 2005; Kobrynski and Sullivan 2007; Ryan et al. 1997). Abnormal development of the pharyngeal arches and pharyngeal pouches [gives rise to the cardinal physical manifestations of the syndrome: conotruncal anomaly, hypocalcemia due to dysfunctional parathyroid glands, palatal abnormalities and paediatric immunodeficiency that may be secondary to hypo/aplasia of the thymus (Lindsay et al. 2001; Scambler 2000).]


1. Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet Part A. 2005; 138:307–313.

6. Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, et al: Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet 61: 620–629 (1997).

17. Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet. 2007; 370:1443–1452.

24. Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H,Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielsen K, Scambler PJ, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997; 34:798–804.

The phenotypic spectrum encompasses several previously described syndromes including DiGeorge, velocardiofacial and conotruncal anomaly face syndromes as well as some individuals with other conditions such as Cayler cardiofacial syndrome. The phenotypic expression of the 22q11.2DS is known to be highly variable and ranges from a severe life-threatening condition to

[page 2]

affected individuals with few associated features (Bassett et al. 2005; Kobrynski and Sullivan 2007; Ryan et al. 1997). Abnormal development of the pharyngeal arches and pharyngeal pouches gives rise to the cardinal physical manifestations of the syndrome: conotruncal anomaly, hypocalcemia due to dysfunctional parathyroid glands, palatal abnormalities and paediatric immunodeficiency that may be secondary to hypo/aplasia of the thymus (Lindsay et al. 2001; Scambler 2000).

[...]

Some smaller or atypical deletions have been reported but there is no evidence for specific genotype–phenotype correlations.


Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet Part A. 2005; 138:307–313. [PubMed: 16208694]

Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet. 2007; 370:1443–1452. [PubMed: 17950858]

Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielsen K, Scambler PJ, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997; 34:798–804. [PubMed: 9350810]

Shaikh TH, Kurahashi H, Saitta SC, O’Hare AM, Hu P, Roe BA, Driscoll DA, McDonald-McGinn DM, Zackai EH, Budarf ML, Emanuel BS. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Hum Mol Genet. 2000; 9:489–501. [PubMed: 10699172]

Anmerkungen

The source is not given.

Sichter
(SleepyHollow02), Hindemith


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