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Autor     Nicole Philip and Anne Bassett
Titel    Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2

Deletion Syndrome

Zeitschrift    Behav Genet.
Jahr    2011
Seiten    403-412
Anmerkung    For the purpose of documentation the page numbering of the linked PDF file is used.
DOI    0.1007/s10519-011-9468-z
URL    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3139630/pdf/nihms1817.pdf

Literaturverz.   

no
Fußnoten    no
Fragmente    6


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[1.] Mmu/Fragment 017 20 - Diskussion
Zuletzt bearbeitet: 2016-02-07 14:48:17 Hindemith
Fragment, Gesichtet, KomplettPlagiat, Mmu, Philip Bassett 2011, SMWFragment, Schutzlevel sysop

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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). 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).

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.

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.

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.

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). 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

[page 2]

individuals with few associated features (Bassett et al. 2005; Kobrynski and Sullivan 2007; Ryan et al. 1997).


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]

Goodship J, Cross I, LiLing J, Wren C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child. 1998; 79:348–351. [PubMed: 9875047]

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]

Anmerkungen

The source is not mentioned.

See also: Mmu/Fragment 071 03

Sichter
(SleepyHollow02), Hindemith

[2.] Mmu/Fragment 018 01 - Diskussion
Zuletzt bearbeitet: 2016-02-07 14:49:47 Hindemith
Fragment, Gesichtet, KomplettPlagiat, Mmu, Philip Bassett 2011, SMWFragment, Schutzlevel sysop

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Developmental delays and learning difficulties are very commonly associated, although severe intellectual disability is rare. Recurrent seizures are common 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). 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 (Bassett et al. 2010).

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.

2. Bassett AS, Chow EW. Schizophrenia and 22q11.2 deletion syndrome. Curr Psychiatry Rep. 2008; 10:148–157.

3. 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.

13. Insel TR. Rethinking schizophrenia. Nature. 2010; 468:187–193.

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 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).


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, Chow EW. Schizophrenia and 22q11.2 deletion syndrome. Curr Psychiatry Rep. 2008; 10:148–157. [PubMed: 18474208]

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]

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

Anmerkungen

The source is not mentioned.

Sichter
(SleepyHollow02), Hindemith

[3.] Mmu/Fragment 018 20 - Diskussion
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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).

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.

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).


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.

Anmerkungen

The source is not given.

Meechan et al. (2011) does not contain the text.

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[4.] Mmu/Fragment 071 03 - Diskussion
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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

[5.] Mmu/Fragment 071 20 - Diskussion
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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.

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[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

The source is not given.

Sichter
(SleepyHollow02), Hindemith

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