Molecular cytogenetic characterization of marker chromosomes found at prenatal diagnosis

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints.

1991 • 679 citations

DNA probe localization at 18p113 band by in situ hybridization and identification of a small supernumerary chromosome

1985 • 313 citations

Human chromosome-specific repetitive DNA sequences: novel markers for genetic analysis

1987 • 271 citations

Isolation and characterization of a major tandem repeat family from the human X chromosome

1983 • 258 citations

Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome

1985 • 236 citations

Forty four probands with an additional ?marker? chromosome

1985 • 235 citations

Genomic Organization of Alpha Satellite DNA on Human Chromosome 7: Evidence for Two Distinct Alphoid Domains on a Single Chromosome

1987 • 231 citations

The ?Cat Eye syndrome?: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter?q11) associated with a characteristic phenotype

1981 • 204 citations

In situhybridisation with fluoresceinated DNA

1991 • 192 citations

Characterization of the Supernumerary Chromosome in Cat Eye Syndrome

1986 • 159 citations

Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentric regions of chromosomes 13, 18, and 21

1986 • 156 citations

Genomic organization of alpha satellite DNA on human chromosome 7: evidence for two distinct alphoid domains on a single chromosome.

1987 • 149 citations

Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics.

1991 • 138 citations

Chromosome-specific alpha satellite DNA: Isolation and mapping of a polymorphic alphoid repeat from human chromosome 10

1988 • 127 citations

Molecular analysis of a deletion polymorphism in alpha satellite of human chromosome 17: evidence for homologous unequal crossing-over and subsequent fixation

1986 • 117 citations

Organization of a repetitive human 1.8 kb KpnI sequence localized in the heterochromatin of chromosome 15

1985 • 116 citations

Characterization of a cloned DNA sequence that is present at centromeres of all human autosomes and the X chromosome and shows polymorphic variation.

1984 • 107 citations

Marker chromosomes in A series of 10000 prenatal diagnoses. Cytogenetic and follow‐up studies

1987 • 105 citations

Chromosome-specific alpha satellite DNA from human chromosome 1: Hierarchical structure and genomic organization of a polymorphic domain spanning several hundred kilobase pairs of centromeric DNA

1987 • 105 citations

Organization and evolution of alpha satellite DNA from human chromosome 11

1987 • 94 citations

Identification of two distinct subfamilies of alpha satellite DNA that are highly specific for human chromosome 15

1990 • 81 citations

The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization.

1990 • 77 citations

Extra structurally abnormal chromosomes (ESAC) detected at amniocentesis: frequency in approximately 75,000 prenatal cytogenetic diagnoses and associations with maternal and paternal age.

1987 • 75 citations

Small marker chromosomes in man: origin from pericentric heterochromatin of chromosomes 1, 9, and 16.

1990 • 74 citations

Localization and polymorphism of a chromosome 12-specific α satellite DNA sequence

1990 • 73 citations

Pallister‐killian syndrome: Characterization of the isochromosome 12p by fluorescent In Situ hybridization

1991 • 63 citations

Chromosome specificity of satellite DNAs: short- and long-range organization of a diverged dimeric subset of human alpha satellite from chromosome 3

1989 • 62 citations

Failure of PHA‐stimulated i(12p) lymphocytes to divide in Pallister–Killian syndrome

1992 • 46 citations

Detection of subtle reciprocal translocations by fluorescence in situ hybridization

1992 • 40 citations

Incidence and significance of supernumerary marker chromosomes in prenatal diagnosis.

1984 • 36 citations

Mosaicism of isochromosome 18p.

1986 • 34 citations

Tetrasomy 18p: a distinctive syndrome.

1984 • 30 citations

Parental origin of the extra chromosome in the cat eye syndrome: Evidence from heteromorphism and in situ hybridization analysis

1988 • 30 citations

A simplified protocol for fluorescence in situ hybridization with repetitive DNA probes and its use in clinical cytogenetics

1991 • 24 citations

Molecular identification of a small supernumerary marker chromosome by in situ hybridization: diagnosis of an isochromosome 18p with probe L1.84

1991 • 23 citations

Chromosome-specific subsets of human alphoid DNA identified by a chromosome 2-derived clone

1990 • 22 citations

Characterization of seven DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization

1991 • 21 citations

Cat‐eye syndrome with different marker chromosomes in a mother and daughter

1987 • 19 citations

Marker Chromosomes: Cytogenetic characterization and implications for prenatal diagnosis

1985 • 19 citations

Multicolor fluorescence in situ hybridization and pulsed field electrophoresis dissect CMT1B gene region

1991 • 19 citations

Prenatal identification of small mosaic markers of different chromosomal origins

1992 • 18 citations

18p tetrasomy. Further evidence for a distinctive clinical syndrome.

1985 • 17 citations

Application of fluorescence in situ hybridization techniques in clinical genetics: use of two alphoid repeat probes detecting the centromeres of chromosomes 13 and 21 or chromosomes 14 and 22, respectively

1991 • 16 citations

The significance of accessory bisatellited marker chromosomes in amniotic fluid cell cultures.

1990 • 12 citations

Correlation between phenotypic expression of de novo marker chromosomes and genomic organization using replicational banding

1990 • 8 citations

Breakpoint localization of the marker chromosome associated with the cat eye syndrome.

1986 • 6 citations

Case Report of Tetrasomy 18p in a Girl

1988 • 3 citations