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MLPA en el estudio de desórdenes genómicos
(Universidad Nacional de Cuyo. Facultad de Ciencias Médicas, 2009)
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2
(2018)
Recurrent, de novo, meiotic non-allelic homologous recombination events between low copy repeats, termed LCR22s, leads to the 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome/DiGeorge syndrome). Although ...
Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum
(Elsevier B.V., 2008-05-01)
Deletions in region 22q11.2 usually occur between two low copy repeat regions (LCRs), which are preferred chromosome sites for rearrangements. Most of the deletions encompass the same similar to 3 or similar to 1.5 Mb ...
Atypical copy number abnormalities in 22q11.2 region: Report of three cases
(Elsevier Science BvAmsterdamHolanda, 2013)
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
(2020)
The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have ...
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
(American Society of Human Genetics by Elsevier Inc., 2020-01)
The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have ...
Estimativa da frequência da inversão SWBinv-1 entre pais de portadores ds síndrome de Williams-Beuren e pais de filhos normais do Brasil
(Universidade Estadual Paulista (Unesp), 2014-12-12)
The Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by various physical abnormalities, including facial dimorphisms, cardiovascular abnormalities, intellectual disability and growth characteristic ...
Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis
(2019)
Background: Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital anomalies ...