Forty four probands with an additional "marker" chromosome.
about
Autistic symptoms among children and young adults with isodicentric chromosome 15De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpointsA non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in manMosaic supernumerary ring chromosome 19 identified by comparative genomic hybridisationDetailed 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.Chromosome imbalance, normal phenotype, and imprinting.Inv dup(15) supernumerary marker chromosomes.Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.Large inv dup(15) chromosome in two generationsMolecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.Multiplex-FISH for pre- and postnatal diagnostic applications.Tetrasomy 15q25.3 --> qter resulting from an analphoid supernumerary marker chromosome in a patient with multiple anomalies and bilateral Wilms tumors.Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH).Extra structurally abnormal chromosomes (ESAC) detected at amniocentesis: frequency in approximately 75,000 prenatal cytogenetic diagnoses and associations with maternal and paternal ageIdentification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.Mechanisms of small ring formation suggested by the molecular characterization of two small accessory ring chromosomes derived from chromosome 4.Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlationsMolecular characterization of the marker chromosome associated with cat eye syndromeMolecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.Tetrasomy 15q: two marker chromosomes with no detectable alpha-satellite DNACytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients.First small supernumerary ring chromosome carrying 10q euchromatin in a patient with mild phenotype characterized by molecular cytogenetic techniques and review of the literature.A case of isodicentric chromosome 15 presented with epilepsy and developmental delayDifferences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism.Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report.A case of an infertile male with a small supernumerary marker chromosome negative for M-FISH and containing only heterochromatin.Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients.Unique case of mosaicism involving two morphologically similar marker chromosomes of different centric origin in a patient with developmental delay.Characterization by fluorescence and electron microscopy in situ hybridization of a double Y isochromosome.Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting.Newborn with Supernumerary Marker Chromosome Derived from Chromosomes 11 And 22- A Case Report.A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes.Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexityThree supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.Genomic characterization of chromosome 8 pericentric trisomy.Frequencies of chromosomal abnormalities at amniocentesis: over 20 years of cytogenetic analyses in one laboratory.Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype.Prenatal diagnosis of partial tetrasomy 14: a case study.Autism and maternally derived aberrations of chromosome 15q.A longitudinal follow-up study of autistic symptoms in children and adults with duplications of 15q11-13.
P2860
Q28283895-FAB13787-6903-453C-8E2C-BAB0DC6B91AAQ30445573-905874FE-C8BF-4FBA-8906-45F11D8AFA1FQ30818512-F28AA6D6-8813-4517-970B-EA883BF9F388Q31995052-8771F647-6E9A-4433-A990-B31DB64AF08BQ33287971-31F9837F-51B9-4F2C-878E-2D3E1E400C58Q33598155-A36C8DCD-619A-4492-A436-4BB6288B147DQ33674701-6504DF38-392A-405F-B88D-9C59FBCA36E4Q33680746-EDEBDA7B-17D6-4BE9-B00C-9C144B234294Q33683424-82EC1AE0-89BB-454E-8F3B-F13849ED283BQ34384983-CDC11AEE-0BB4-4F2F-AF7B-0F79747915E0Q34390002-B63C210A-5A7E-44AF-8B61-C9EE9E7E7451Q34980069-5272A70E-67A4-433E-A501-0B8382B00925Q35194867-D6BAE8AD-7420-4B6B-AB4D-248C2A4908A1Q35198925-9C767B9E-8170-4C7C-924D-6B392875B0FAQ35434123-83740869-67BB-4F4B-BECC-D6D7A6FE4FE6Q35643993-D24F88BB-41AF-49D7-B553-8AED969BD571Q35889263-BF27174C-DBE8-4022-8952-BE274757778DQ35889314-E1D346E8-4C13-4158-9159-D3A58641ADC4Q35889343-6A110A60-F5F3-491A-B276-CE0E9FEA4823Q35889346-C85DDCDA-7EE8-4A43-AE79-71FF0B6B2BC6Q35889504-7B4899D9-F8E4-4CAC-96BA-0E0325155EB1Q35997690-A209A61E-EE15-436C-989F-6A46B7F054ACQ36499665-D9117B3D-EC1E-4373-B139-743EC559FB4BQ36730353-5F941C19-0362-46F6-AC1A-18B9D9505AF7Q36882049-F994A9A5-C7A0-4C6D-AF53-76C3296C9FEAQ37284478-58A27CB8-59AE-421C-AFB1-3C5988CED2B0Q38462574-4A400F26-78B7-43E7-B29A-0ED54FEF6272Q38490158-3B53348D-D365-4A14-A284-E302CD5DAF75Q38504065-1281AC58-0914-4633-B21B-4F9A14314F41Q38506881-FEBC7041-0A0F-4AA7-AD4C-B81B59AECD16Q40834169-DDD6EE42-26F9-44EB-9529-1F6EA64D6D78Q41074063-C22AEB84-2C02-4D11-B96F-C0147AF86DA4Q41778761-CDBAEE60-F942-4AE9-B913-8FD301F09156Q41809824-A8D5D58B-58B0-4154-BDDD-6978B08DD389Q42424835-43F49136-0DF0-4BF2-B3BE-F669B784B12CQ43659078-6F8AB475-0E8D-4668-9F64-1A0D11846EBDQ48656437-36BD1AC3-3C4C-478D-AE9E-82EB310CB16FQ48682052-FF5FB29B-BFFB-405C-A117-7FD0097B0CBAQ50302069-62298BAA-FCA7-492C-931B-C04CFD3B1DBCQ50307457-34C9482B-3555-4FA9-8D55-D061F6AD0B1E
P2860
Forty four probands with an additional "marker" chromosome.
description
1985 nî lūn-bûn
@nan
1985年の論文
@ja
1985年学术文章
@wuu
1985年学术文章
@zh
1985年学术文章
@zh-cn
1985年学术文章
@zh-hans
1985年学术文章
@zh-my
1985年学术文章
@zh-sg
1985年學術文章
@yue
1985年學術文章
@zh-hant
name
Forty four probands with an additional "marker" chromosome.
@en
Forty four probands with an additional "marker" chromosome.
@nl
type
label
Forty four probands with an additional "marker" chromosome.
@en
Forty four probands with an additional "marker" chromosome.
@nl
prefLabel
Forty four probands with an additional "marker" chromosome.
@en
Forty four probands with an additional "marker" chromosome.
@nl
P2093
P356
P1433
P1476
Forty four probands with an additional "marker" chromosome.
@en
P2093
K E Buckton
M S Newton
P2888
P304
P356
10.1007/BF00291656
P577
1985-01-01T00:00:00Z