BIOMAT Database Logo BIOMAT Database Logo

Novel isodicentric chromosome 18 in an abnormal infant with a mosaic karyotype [46,XY/46,XY,-18,+dic(18)(q12.2]). 1990

C R Bryke, and V Lindgren, and J S Fryburg, and T L Yang-Feng
Department of Human Genetics, Yale University School of Medicine, New Haven, Connecticut 06510-8005.

A previously unreported isodicentric chromosome 18 was discovered in an abnormal infant boy whose mosaic karyotype was 46,XY/46,XY,-18,+idic(18)(q12.2). His constellation of congenital anomalies was typical of the 18q-syndrome. The clinical and cytogenetic characteristics of this patient are reported, and the literature concerning isochromosomes of 18 is reviewed.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297 Male Males
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D002871 Chromosome Banding Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping. Banding, Chromosome,Bandings, Chromosome,Chromosome Bandings
D002887 Chromosomes, Human, Pair 18 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 18
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013577 Syndrome A characteristic symptom complex. Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes

Related Publications

C R Bryke, and V Lindgren, and J S Fryburg, and T L Yang-Feng
Isodicentric chromosome 18 in an abnormal infant using chromosome specific DNA probe.
May 1992, Clinical genetics,
C R Bryke, and V Lindgren, and J S Fryburg, and T L Yang-Feng
Mosaic Turner Syndrome Presenting with a 46,XY Karyotype.
January 2019, Case reports in obstetrics and gynecology,
C R Bryke, and V Lindgren, and J S Fryburg, and T L Yang-Feng
Sperm ultrastructure and 18, X, Y aneuploidies in a man with a 46 XY, 47 XY + 18 mosaic karyotype: case report.
August 2007, Journal of assisted reproduction and genetics,
C R Bryke, and V Lindgren, and J S Fryburg, and T L Yang-Feng
A mosaic case of isodicentric chromosome 18.
October 1992, Acta paediatrica Japonica : Overseas edition,
C R Bryke, and V Lindgren, and J S Fryburg, and T L Yang-Feng
[True hermaphroditism with chromosome mosaic 46,XX-46,XY].
September 1970, Zentralblatt fur Gynakologie,
C R Bryke, and V Lindgren, and J S Fryburg, and T L Yang-Feng
Diagnostic Pitfall: Mosaic Turner syndrome with a 46, XY lymphocyte karyotype.
September 2021, Pediatrics international : official journal of the Japan Pediatric Society,
C R Bryke, and V Lindgren, and J S Fryburg, and T L Yang-Feng
[Ring chromosome 18 46,XY,r(18)].
February 1987, Anales espanoles de pediatria,
C R Bryke, and V Lindgren, and J S Fryburg, and T L Yang-Feng
Chromosome 22 mosaic monosomy (46,XY/45,XY,-22).
January 1987, Annales de genetique,
C R Bryke, and V Lindgren, and J S Fryburg, and T L Yang-Feng
Mosaic 46, XY/47,XY, + der(18)t(Y;18)(q11.22;q11.2) karyotype, moderate mental retardation and non-specific dysmorphism.
January 1990, Genetic counseling (Geneva, Switzerland),
C R Bryke, and V Lindgren, and J S Fryburg, and T L Yang-Feng
Child with 46, XY/46, XY, 18p- mosaic.
January 1976, Endocrinologie,
Copied contents to your clipboard!