Directly transmitted unbalanced chromosome abnormalities and euchromatic variants
about
Somatic/gonadal mosaicism for structural autosomal rearrangements: female predominance among carriers of gonadal mosaicism for unbalanced rearrangementsCytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variantsHuman molecular cytogenetics: From cells to nucleotidesCharacterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal maleFamilial deletion 18p syndrome: case reportNew immortalized cell lines of patients with small supernumerary marker chromosome: towards the establishment of a cell bank.Molecular cytogenetics and cytogenomics of brain diseases.Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions.Interpretation of array comparative genome hybridization data: a major challenge.Discovery of variants unmasked by hemizygous deletions.Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.New cytogenetically visible copy number variant in region 8q21.2.Guidelines for molecular karyotyping in constitutional genetic diagnosis.Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18.Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2.Exceptional complex chromosomal rearrangements in three generationsAutosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p1616p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II ErrorsSmall supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among themInterstitial 6q21q23 duplication - variant of variable phenotype and incomplete penetrance or benign duplication?Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis eventA three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies.Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.Marker chromosomes.A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man.Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin.A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.A novel pseudo-dicentric variant of 16p11.2-q11.2 contains euchromatin from 16p11.2-p11.1 and resembles pathogenic duplications of proximal 16q.Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.Clinical impact of proximal autosomal imbalances.De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia.Clinical interpretation of copy number variants in the human genome.American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions.Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization.Partial Duplication of 18q Including a Distal Critical Region for Edwards Syndrome in a Patient with Normal Phenotype and Oligoasthenospermia: Case Report
P2860
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P2860
Directly transmitted unbalanced chromosome abnormalities and euchromatic variants
description
2005 nî lūn-bûn
@nan
2005 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Directly transmitted unbalanced chromosome abnormalities and euchromatic variants
@ast
Directly transmitted unbalanced chromosome abnormalities and euchromatic variants
@en
type
label
Directly transmitted unbalanced chromosome abnormalities and euchromatic variants
@ast
Directly transmitted unbalanced chromosome abnormalities and euchromatic variants
@en
prefLabel
Directly transmitted unbalanced chromosome abnormalities and euchromatic variants
@ast
Directly transmitted unbalanced chromosome abnormalities and euchromatic variants
@en
P2860
P356
P1476
Directly transmitted unbalanced chromosome abnormalities and euchromatic variants
@en
P2093
P2860
P304
P356
10.1136/JMG.2004.026955
P407
P577
2005-08-01T00:00:00Z