A deletion in chromosome 22 can cause digeorge syndrome

A, de la Chapelle; Herva, Riitta; Koivisto, Maila; Aula, Pertti

doi:10.1007/bf00278938

Cited by 333 publications

(134 citation statements)

References 15 publications

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“…Structural changes of certain chromosomal segments were first associated with several human genetic disorders in the early 1980s, such as Prader-Willi syndrome at 15q11-q13 (Ledbetter et al 1981) and DiGeorge syndrome at 22q11 (de la Chapelle et al 1981). Different terms (e.g., contiguous gene, microdeletion, contiguous deletion, and segmental aneusomy) were given to describe these and other syndromes later associated with a specific structural change of a chromosome, including the more apt term, genomic disorder (Lupski 1998).…”

mentioning

confidence: 99%

Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders

Ji¹,

Eichler²,

Schwartz³

et al. 2000

Genome Res.

231

158

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Chromosome-specific low-copy repeats, or duplicons, occur in multiple regions of the human genome. Homologous recombination between different duplicon copies leads to chromosomal rearrangements, such as deletions, duplications, inversions, and inverted duplications, depending on the orientation of the recombining duplicons. When such rearrangements cause dosage imbalance of a developmentally important gene(s), genetic diseases now termed genomic disorders result, at a frequency of 0.7–1/1000 births. Duplicons can have simple or very complex structures, with variation in copy number from 2 to >10 repeats, and each varying in size from a few kilobases in length to hundreds of kilobases. Analysis of the different duplicons involved in human genomic disorders identifies features that may predispose to recombination, including large size and high sequence identity between the recombining copies, putative recombination promoting features, and the presence of multiple genes/pseudogenes that may include genes expressed in germ cells. Most of the chromosome rearrangements involve duplicons near pericentromeric regions, which may relate to the propensity of such regions to accumulate duplicons. Detailed analyses of the structure, polymorphic variation, and mechanisms of recombination in genomic disorders, as well as the evolutionary origin of various duplicons will further our understanding of the structure, function, and fluidity of the human genome.

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mentioning

confidence: 99%

Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders

Ji¹,

Eichler²,

Schwartz³

et al. 2000

Genome Res.

231

158

View full text Add to dashboard Cite

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“…It also affects other portions of the pharyngeal pouch besides the third and fourth pharyngeal pouch, and abnormal migration of neural crest cells is thought to be the cause of this anomalies [l, 2]. More than 95% of the subjects reveal the deletion by translocation of the 22nd chromosome long arm q 11 [3][4][5][6][7][8][9][10][11][12][13][14][15] . The initial symptom is tetany due to hypocalcemia within 24-48 hours after birth, with symptoms associated with immune defects appearing later.…”

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confidence: 99%

DiGeorge Syndrome with Graves' Disease. A Case Report.

et al. 2000

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Abstract.DiGeorge syndrome (DGS) is characterized by aplasia or hypoplasia of the thymus and parathyroid glands, cardiac defects and anomaly face. This syndrome is usually associated with hypocalcemia resulting from hypoparathyroidism.In most cases the initial symptom is tetany caused by hypocalcemia within 24-48 hours after birth, with symptoms by immune abnormality appearing later. We report a woman who passed with no symptoms before age 18 and was diagnosed DiGeorge syndrome by tetany with developing auto-immune thyroid disease (Graves' disease). She had surgery for intraventricular septal defect at age 3, hypoparathyroidism, decrease of T cells in peripheral blood and the deletion of the 22nd chromosome long arm (22811.2). It is supposed that abnormalities of immune function of this case are not complete as indicated by complicating of Graves' disease, and contributing to her long-term survival.

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“…However, the phenotype of Hox 1.5 absence differs somewhat in the cardiac abnormalities found and includes many more abnormalities than DiGeorge, but since the mice die in a few hours, comparisons to children who survive long enough to be diagnosed may not be appropriate. Perhaps the biggest discrepancy between the two is that DiGeorge is associated with deletions or microdeletions of 22ql.l in up to 50% of patients (Augusseau et al, 1986;De la Chapelle et al, 1981;Greenberg et al, 1986;Kelley et al, 1982;Schwanitz and Zerres, 1984;Scambler et al, 1991;Halford et al, 1993), while the human equivalent of Hox 1.5 maps to chromosome 7.…”

Section: Mammalsmentioning

confidence: 99%

Recent advances in developmental genetics: Growth factors and morphogens

Erickson

1995

Molecular Reproduction Devel

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A deletion in chromosome 22 can cause digeorge syndrome

Cited by 333 publications

References 15 publications

Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders

Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders

DiGeorge Syndrome with Graves' Disease. A Case Report.

Recent advances in developmental genetics: Growth factors and morphogens

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