Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization

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

1991 • 679 citations

Forty four probands with an additional ?marker? chromosome

1985 • 235 citations

Characterization of the Supernumerary Chromosome in Cat Eye Syndrome

1986 • 159 citations

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

1991 • 138 citations

Analysis of deoxyribonucleic acid replication in human X chromosomes by fluorescence microscopy.

1976 • 123 citations

Ullrich‐Turner syndrome with a small ring X chromosome and presence of mental retardation

1992 • 95 citations

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

1990 • 77 citations

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

1990 • 74 citations

Preferential maternal derivation in inv dup(15)

1981 • 71 citations

Prader‐Willi syndrome and a bisatellited derivative of chromosome 15

1980 • 65 citations

The genetic significance of accessory bisatellited marker chromosomes

1983 • 64 citations

Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes

1993 • 52 citations

45X/46X,r(X) with syndactyly and severe mental retardation

1987 • 51 citations

45,X/46,X, + r(X) can have a distinct phenotype different from Ullrich‐Turner syndrome

1992 • 43 citations

A case of 46,XX,r(X) (p1q1) diagnosed by in situ hybridization

1990 • 27 citations

EXTRA DICENTRIC 15pter→q21/22 CHROMOSOMES IN FIVE UNRELATED PATIENTS WITH A DISTINCT SYNDROME OF PROGRESSIVE PSYCHOMOTOR RETARDATION, SEIZURES, HYPER‐REACTIVITY AND DERMATOGLYPHIC ABNORMALITIES

1980 • 23 citations

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

1991 • 21 citations

The supernumerary isochromosome 18 syndrome (+ 18pu).

1974 • 15 citations

Familial supernumerary microchromosome mosaicism: Phenotypic effects and an attempt at characterization

1983 • 12 citations

Classical Prader-Willi syndrome with trisomy 15(pter----q12) plus de novo variant 15p11.

1989 • 12 citations