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

abstract

• A small marker chromosome was identified as an X‐derived ring chromosome by in situ hybridization with a biotinylated X‐chromosome specific a‐satellite DNA probe. This procedure clearly determined the chromosomal origin of the marker chromosome, which had been impossible to define by conventional cytogenetic techniques including high resolution banding.

authors

• Koch, J
• Kølvraa, S
• Hobolt, N
• Petersen, GB
• Willard, HF
• Waye, John
• Gregersen, N
• Bolund, L

status

• published 

publication date

• March 1990

has subject area

• 0604 Genetics (FoR)
• 1103 Clinical Sciences (FoR)
• Centromere (MeSH)
• Chromosome Aberrations (MeSH)
• DNA, Satellite (MeSH)
• Female (MeSH)
• Genetic Markers (MeSH)
• Genetics & Heredity (Science Metrix)
• Humans (MeSH)
• Infant, Newborn (MeSH)
• Nucleic Acid Hybridization (MeSH)
• Ring Chromosomes (MeSH)
• Turner Syndrome (MeSH)
• X Chromosome (MeSH)

published in

• Clinical Genetics  Journal

keywords

• Centromere
• Chromosome Aberrations
• DNA, Satellite
• Female
• Genetic Markers
• Humans
• Infant, Newborn
• Nucleic Acid Hybridization
• Ring Chromosomes
• Turner Syndrome
• X Chromosome

Digital Object Identifier (DOI)

• 10.1111/j.1399-0004.1990.tb03505.x

PubMed ID

• 2323091

start page

• 216

end page

• 220

volume

• 37

issue

• 3