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Typus
Verschleierung
Bearbeiter
SleepyHollow02
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 72, Zeilen: 1-27
Quelle: Philip Bassett 2011
Seite(n): 2, 3, 5, 8, Zeilen: 2: 2 ff.; 5: 34ff; 8: 9ff
[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). Major heart defects are present in about 40% of cases while minor anomalies, e.g., of the aortic arch, may be identified only on cardiac ultrasonography. Overt cleft palate is rare, whereas submucous cleft palate associated with velopharyngeal insufficiency is characteristic of 22q11.2DS. In contrast, the facial features are considered a constant manifestation of the syndrome (Guyot et al. 2001), although the overall facial appearance is not always readily identifiable even to informed clinicians.

Developmental delays and learning difficulties are very commonly associated, although severe intellectual disability is rare. Recurrent seizures are common, especially those related to hypocalcemia, and epilepsy may be present in about 5% of patients. Psychiatric conditions may be present in children and over 60% of patients develop treatable psychiatric disorders by adulthood (Bassett et al. 2005). This risk is a major concern for families. In particular, due to the high frequency of schizophrenia in 22q11.2DS patients, the 22q11.2 region is considered to be one of the main schizophrenia susceptibility loci in humans (Bassett and Chow 2008; Insel 2010). Evidence from multiple studies indicates that about 1% of individuals with schizophrenia in the general population have 22q11.2 deletions (Basset et al, 2010). The commonly deleted region in 22q11.2 encompasses approximately 45 genes and most of them are expressed in fetal and adult brain, thus are candidates for both the psychiatric phenotype of patients with 22q11.2 deletions and susceptibility to psychiatric disorders in the general population (Meechan et al. 2010). As clinical variability is not explained by differences in gene content within the deletion, allelic variation(s) in the non-deleted homologous region is considered a possible contributor to phenotypic variability.


6. Bassett AS, et al. Clinically detectable copy number variations in a Canadian catchment population of schizophrenia. J Psychiatr Res. 2010; 44:1005–1009.

12. Guyot L, Dubuc M, Pujol J, Dutour O, Philip N. Craniofacial anthropometric analysis in patients with 22q11 microdeletion. Am J Med Genet. 2001; 100:1–8.

18. Lindsay EA, Baldini A. Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region. Hum Mol Genet. 2001; 10:997–1002.

19. Meechan DW, Maynard TM, Tucker ES, Lamantia AS. Three phases of DiGeorge/22q11 deletion syndrome pathogenesis during brain development: patterning, proliferation, and mitochondrial functions of 22q11 genes. Int J Dev Neurosci. 2011 May;29(3):283-94.

26. Scambler PJ. The 22q11 deletion syndromes. Hum Mol Genet. 2000; 9:2421– 2426.

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). [...] Major heart defects are present in about 40% of cases while minor anomalies, e.g., of the aortic arch, may be identified only on cardiac ultrasonography. Overt cleft palate is rare, whereas submucous cleft palate associated with velopharyngeal insufficiency is characteristic of 22q11.2DS. [...] In contrast, the facial features are considered a constant manifestation of the syndrome (Guyot et al. 2001), although the overall facial appearance is not always readily identifiable even to informed clinicians. [...] Developmental delays and learning difficulties are very commonly associated, although severe intellectual disability (termed mental retardation in the DSM diagnostic system) is rare. Recurrent seizures are common, especially those related to hypocalcemia, and epilepsy may be present in about 5% of patients. Psychiatric conditions may be present in children and over 60% of patients develop treatable psychiatric disorders by adulthood (Bassett et al. 2005). This risk is a major concern for families. In particular, due to the high frequency of schizophrenia in 22q11.2DS patients, the 22q11.2 region is considered to be one of the main schizophrenia susceptibility loci in humans (Bassett and Chow 2008; Insel 2010).

[page 3]

The commonly deleted region in 22q11.2DS encompasses approximately 45 genes and the consequences of decreased gene dosage of multiple genes are believed to be involved in phenotypic expression (Meechan et al. 2010).

[page 5]

Evidence from multiple studies indicates that about 1% of individuals with schizophrenia in the general population have 22q11.2 deletions (Bassett et al. 2010).

[page 8]

As clinical variability is not explained by differences in gene content within the deletion, allelic variation(s) in the non-deleted homologous region is considered a possible contributor to phenotypic variability. [...]

[...]

[...] Most of the genes from the 22q11.2 deletion region are expressed in fetal and adult brain, thus are candidates for both the psychiatric phenotype of patients with 22q11.2 deletions and susceptibility to psychiatric disorders in the general population (Meechan et al. 2010).


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]

Bassett AS, Costain G, Fung WLA, Russell KJ, Pierce L, Kapadia R, Carter RF, Chow EW, Forsythe PJ. Clinically detectable copy number variations in a Canadian catchment population of schizophrenia. J Psychiatr Res. 2010; 44:1005–1009. [PubMed: 20643418]

Guyot L, Dubuc M, Pujol J, Dutour O, Philip N. Craniofacial anthropometric analysis in patients with 22q11 microdeletion. Am J Med Genet. 2001; 100:1–8. [PubMed: 11337741]

Insel TR. Rethinking schizophrenia. Nature. 2010; 468:187–193. [PubMed: 21068826]

Lindsay EA, Baldini A. Recovery from arterial growth delay reduces penetrance of cardiovascular defects in mice deleted for the DiGeorge syndrome region. Hum Mol Genet. 2001; 10:997–1002. [PubMed: 11309372]

Meechan DW, Maynard TM, Tucker ES, Lamantia AS. Three phases of DiGeorge/22q11 deletion syndrome pathogenesis during brain development: patterning, proliferation, and mitochondrial functions of 22q11 genes. Int J Dev Neurosci. 2010 in press.

Scambler PJ. The 22q11 deletion syndromes. Hum Mol Genet. 2000; 9:2421–2426. [PubMed: 11005797]

Anmerkungen

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Sichter
(SleepyHollow02), Hindemith

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