Inverted duplication, triplication and quintuplication through sequential breakage‐fusion‐bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.965
Abstract: Integrated chromosome, fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (aCGH) analyses have been effective in defining unbalanced chromosomal rearrangements. Discordant chromosome and aCGH results are rarely reported. read more here.
Keywords: inverted duplication; sequential breakage; breakage fusion; duplication triplication ... See more keywords
β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA
Sign Up to like & getrecommendations! Published in 2019 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a003954
Abstract: β-Mannosidosis is a lysosomal storage disorder characterized by accumulation of disaccharides due to deficiency of the lysosomal enzyme β-mannosidase. The disease is caused by mutations in MANBA and is extremely rare in humans. Although the… read more here.
Keywords: intragenic inverted; novel homozygous; inverted duplication; duplication ... See more keywords
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum
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DOI: 10.1111/cge.14096
Abstract: Inverted duplication deletion 8p [invdupdel(8p)] is a complex and rare chromosomal rearrangement that combines a distal deletion and an inverted interstitial duplication of the short arm of chromosome 8. Carrier patients usually have developmental delay… read more here.
Keywords: duplication deletion; duplication; genotype phenotype; inverted duplication ... See more keywords
Clinical Manifestations of Various Molecular Cytogenetic Variants of Eight Cases of “8p Inverted Duplication/Deletion Syndrome”
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DOI: 10.3390/biomedicines10030567
Abstract: Inverted duplication syndrome with an adjacent terminal deletion of the short arm of chromosome 8—inv dup del(8p)—is a rare complex structural chromosomal rearrangement with a wide range of clinical manifestations. Molecular cytogenetic variants of chromosomal… read more here.
Keywords: molecular cytogenetic; deletion; clinical manifestations; inverted duplication ... See more keywords