Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome)
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DOI: 10.1007/s11882-018-0823-5
Abstract: Purpose of ReviewThis review provides an update on the progress in identifying the range of immunological dysfunction seen in DiGeorge syndrome and on more recent diagnostic and treatment approaches.Recent FindingsClinically, the associated thymic hypoplasia/aplasia is… read more here.
Keywords: deletion; digeorge syndrome; 22q11 deletion; chromosome 22q11 ... See more keywords
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
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DOI: 10.1016/j.ajhg.2017.09.002
Abstract: Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most common genomic disorder, no… read more here.
Keywords: inversion polymorphisms; meiotic rearrangements; predispose chromosome; chromosome 22q11 ... See more keywords
Association between chromosome 22q11.2 translocation and male oligozoospermia
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DOI: 10.1097/md.0000000000030790
Abstract: Chromosomal aberrations in peripheral blood are a major cause of reproductive disorders for the infertile couples. Reciprocal translocation is closely related to male infertility. The breakpoint of translocation may disrupt or dysregulate important genes related… read more here.
Keywords: chromosome 22q11; translocation; 22q11 translocation; breakpoint ... See more keywords
Aortic Arch Laterality in Chromosome 22q11.2 Deletion Syndrome: Male-Female Difference
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DOI: 10.1177/00099228221127730
Abstract: We reviewed patients with chromosome 22q11.2 deletion syndrome. We analyzed cardiovascular findings in patients with confirmed chromosome 22q11.2 deletion syndrome live-born in Nevada between March 2007 and September 2020. We identified 60 patients. Of the… read more here.
Keywords: aortic arch; 22q11 deletion; chromosome 22q11; deletion syndrome ... See more keywords
An Adult Case of Chromosome 22q11.2 Deletion Syndrome Associated with a High-positioned Right Aortic Arch
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DOI: 10.2169/internalmedicine.56.7558
Abstract: Chromosome 22q11.2 deletion syndrome (22q11.2 DS) has a very wide phenotypic spectrum that includes dysmorphic features, cardiac anomalies, and hypocalcemia arising from hypoparathyroidism. We herein describe an adult case of 22q11.2 DS with associated hypoparathyroidism… read more here.
Keywords: deletion syndrome; arch; aortic arch; adult case ... See more keywords