The association of the DiGeorge anomalad with partial monosomy of chromosome 22

Kelley, Richard I.; Zackai, Elaine H.; Emanuel, Beverly S.; Kistenmacher, Mildred L.; Greenberg, Frank; Punnett, Hope H.

doi:10.1016/s0022-3476(82)80116-9

Cited by 171 publications

(73 citation statements)

References 14 publications

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“…reported an association between DiGeorge syndrome and a deletion in chromosome 22. Subsequently other reports of a similar association have been published (Kelley et al, 1982;Greenberg et al, 1984;Pong et al, 1985;Schwanitz and Zerres, 1987;Faed et al, 1987). Using high-resolution banding analysis, we report a patient with incomplete DiGeorge syndrome, who showed a deletion of 22ql 1.1 band.…”

Section: Introductionsupporting

confidence: 67%

A case of incomplete DiGeorge syndrome associated with partial monosomy 22q11.1 due to maternal 14;22 translocation

et al. 1989

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Section: Introductionsupporting

confidence: 67%

A case of incomplete DiGeorge syndrome associated with partial monosomy 22q11.1 due to maternal 14;22 translocation

et al. 1989

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“…Such translocations were used to demonstrate that a region on the long arm of chromosome 22 [4,5] was involved in DiGeorge syndrome, a condition that is frequently associated with ID [6] alongside numerous other syndromic features.…”

Section: Chromosomal Abnormalities and Copy Number Variants (Cnvs)mentioning

confidence: 99%

“…High-resolution karyotyping allows genome-wide detection of large CNVs (e.g., [2][3][4][5], while fluorescence in situ hybridization (FISH) allows targeted detection of sub-microscopic CNVs (e.g., [100 kb). Many such CNVs are clinically relevant, for example, deletion CNVs on the long arm of chromosome 22 (22q11.2) are a more common cause of DiGeorge syndrome than the translocations identified by karyotype analysis [7].…”

Section: Chromosomal Abnormalities and Copy Number Variants (Cnvs)mentioning

confidence: 99%

Cross-Disorder Comparison of Four Neuropsychiatric CNV Loci

et al. 2014

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Copy number variants (CNVs) have been identified as a major risk factor in neuropsychiatric disorders. In this review, we describe the phenotypes and syndromic features associated with CNVs at four of the bestcharacterized risk loci for these disorders: 15q11.2-13.1, 22q11.2, 16p11.2, and 7q11.23. By considering the reported prevalence of these CNVs in autism, intellectual disability, schizophrenia, and controls, we demonstrate a pattern of asymmetric shared risk in which CNVs increase the risk of multiple disorders but to differing degrees. This asymmetric risk sharing is incompatible with a model in which CNVs observed in autism or schizophrenia are secondary to a reduction in IQ, but favors a more complex relationship between individual CNVs and specific neuropsychiatric phenotypes. Finally, we discuss how the lessons learned from CNVs in neuropsychiatric disorders will translate to the expanding list of genes being associated with these disorders through exome sequencing.

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“…Deletion within chromosome 22 was identified as the cause of DiGeorge syndrome in the early 1980s [11,12]. 90% of individuals have a heterozygous deletion of identical three million base pairs (3 Mb) of 22q11.2, referred to as the 'common deletion' [13].…”

Section: Introductionmentioning

confidence: 99%

Immunodeficiency and Autoimmunity in 22q11.2 Deletion Syndrome

2007

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22q11.2 deletion syndrome is the commonest chromosome deletion syndrome. 22q11.2 deletion may result in variable clinical phenotypes which may differ even between patients with identical deletions. Abnormal pharyngeal arch development results in defects in the development of the parathyroid glands, thymus and conotruncal region of the heart. Defective thymic development is associated with impaired immune function. ‘Complete’ DiGeorge syndrome with total absence of the thymus and a severe T‐cell immunodeficiency accounts for <0.5% of patients. The majority of patients with 22q11.2 deletion syndromes have ‘partial’ defects with impaired thymic development rather than complete absence with variable defects in T‐cell numbers. Immunodeficiency in these patients is not solely due to T‐cell deficiency and abnormalities of T‐cell clonality or impairment of proliferative responses may play a role. Humoral deficiencies including defects in the B‐cell compartment have also been identified in these patients. 22q11.2 deletion syndrome patients are at increased risk of a variety of autoimmune diseases. A number of immune defects may predispose to the development of autoimmunity in these patients including increased infection, impaired development of natural T‐regulatory cells and impaired thymic central tolerance.

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The association of the DiGeorge anomalad with partial monosomy of chromosome 22

Cited by 171 publications

References 14 publications

A case of incomplete DiGeorge syndrome associated with partial monosomy 22q11.1 due to maternal 14;22 translocation

A case of incomplete DiGeorge syndrome associated with partial monosomy 22q11.1 due to maternal 14;22 translocation

Cross-Disorder Comparison of Four Neuropsychiatric CNV Loci

Immunodeficiency and Autoimmunity in 22q11.2 Deletion Syndrome

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