Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.
about
Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking dupliconsThe inv dup (15) or idic (15) syndrome (Tetrasomy 15q)Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes.Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.The mechanisms involved in formation of deletions and duplications of 15q11-q13.Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.Large inv dup(15) chromosome in two generationsFrom microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype.The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplicationsPaternal Transmission of Small Supernumerary Marker Chromosome 15 Identified in Prenatal Diagnosis Due to Advanced Maternal Age.Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism.Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity.Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.
P2860
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P2860
Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
Cytogenetic and molecular char ...... romosomes 15 from 11 patients.
@ast
Cytogenetic and molecular char ...... romosomes 15 from 11 patients.
@en
type
label
Cytogenetic and molecular char ...... romosomes 15 from 11 patients.
@ast
Cytogenetic and molecular char ...... romosomes 15 from 11 patients.
@en
prefLabel
Cytogenetic and molecular char ...... romosomes 15 from 11 patients.
@ast
Cytogenetic and molecular char ...... romosomes 15 from 11 patients.
@en
P2093
P2860
P1476
Cytogenetic and molecular char ...... romosomes 15 from 11 patients.
@en
P2093
E H Zackai
N B Spinner
P2860
P304
P407
P577
1994-10-01T00:00:00Z