Interstitial deletion and ring chromosome derived from 16q. 1987

C M Krauss, and D Caldwell, and L Atkins

An interstitial deletion of 16q was identified in an infant with failure to thrive, dysmorphic facies, and congenital heart defects. The mother of this infant had a similar deletion of 16q with ring formation of a fragment presumed to be derived from the deleted portion of 16q. We discuss these cases and compare them to other reports of 16q deletions.

UI MeSH Term Description Entries
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
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
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002885 Chromosomes, Human, Pair 16 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 16
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D012303 Ring Chromosomes Aberrant chromosomes with no ends, i.e., circular. Chromosomes, Ring,Chromosome, Ring,Ring Chromosome
D025063 Chromosome Disorders Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) Autosomal Chromosome Disorders,Chromosome Abnormality Disorders,Chromosomal Disorders,Autosomal Chromosome Disorder,Chromosomal Disorder,Chromosome Abnormality Disorder,Chromosome Disorder,Chromosome Disorder, Autosomal,Chromosome Disorders, Autosomal,Disorder, Chromosomal,Disorder, Chromosome,Disorder, Chromosome Abnormality,Disorders, Chromosomal,Disorders, Chromosome

Related Publications

C M Krauss, and D Caldwell, and L Atkins
June 1992, American journal of medical genetics,
C M Krauss, and D Caldwell, and L Atkins
January 1989, Pediatrie,
C M Krauss, and D Caldwell, and L Atkins
January 1992, Annales de genetique,
C M Krauss, and D Caldwell, and L Atkins
January 1981, Annales de genetique,
C M Krauss, and D Caldwell, and L Atkins
May 1999, British journal of cancer,
C M Krauss, and D Caldwell, and L Atkins
October 1987, American journal of medical genetics,
C M Krauss, and D Caldwell, and L Atkins
April 2000, American journal of medical genetics,
C M Krauss, and D Caldwell, and L Atkins
October 1982, Clinical genetics,
C M Krauss, and D Caldwell, and L Atkins
April 1985, Journal of medical genetics,
C M Krauss, and D Caldwell, and L Atkins
July 2003, Clinical dysmorphology,
Copied contents to your clipboard!