BIOMAT Database Logo BIOMAT Database Logo

[Ring chromosome 10: 46,XX,r(10)(p15q26)]. 1982

F Serville, and R Briault, and J L Taillemite, and S Despoisse, and P Cotoni, and A Broustet

A teenage girl with growth and mental retardation, urinary tract and eye abnormalities was found to have an r(10)(p15q26) in blood cells. Quantitative evaluation of seven red cell enzymes including three (HK1, TGOS, PGAMA) known to be on chromosome 10, gave normal values.

UI MeSH Term Description Entries
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
D008607 Intellectual Disability Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
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
D002906 Chromosomes, Human, 6-12 and X The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome. Chromosomes C,Group C Chromosomes,Chromosomes, Human, 6-12,Chromosome, Group C,Chromosomes, Group C,Group C Chromosome
D003878 Dermatoglyphics The study of the patterns of ridges of the skin of the fingers, palms, toes, and soles. Fingerprints,Plantar Prints,Fingerprint,Plantar Print,Print, Plantar,Prints, Plantar
D004912 Erythrocytes Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN. Blood Cells, Red,Blood Corpuscles, Red,Red Blood Cells,Red Blood Corpuscles,Blood Cell, Red,Blood Corpuscle, Red,Erythrocyte,Red Blood Cell,Red Blood Corpuscle
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

Related Publications

F Serville, and R Briault, and J L Taillemite, and S Despoisse, and P Cotoni, and A Broustet
Ring 10 chromosome: 46,XX,r10(p15q26).
September 1978, Human genetics,
F Serville, and R Briault, and J L Taillemite, and S Despoisse, and P Cotoni, and A Broustet
Ring chromosome 10:46,XX,r(10)(p15 leads to q26).
April 1980, Journal of medical genetics,
F Serville, and R Briault, and J L Taillemite, and S Despoisse, and P Cotoni, and A Broustet
Physical retardation is associated with ring chromosome mosaicism: 46, XX,r(10)/45, XX,10 minus.
February 1977, Journal of medical genetics,
F Serville, and R Briault, and J L Taillemite, and S Despoisse, and P Cotoni, and A Broustet
A child with a ring-4 chromosome (46,XX-46,XX,r 4).
September 1974, American journal of diseases of children (1960),
F Serville, and R Briault, and J L Taillemite, and S Despoisse, and P Cotoni, and A Broustet
Ring chromosome 15; 46,XX,r(15) (p11q26) in a girl.
September 1978, Jinrui idengaku zasshi. The Japanese journal of human genetics,
F Serville, and R Briault, and J L Taillemite, and S Despoisse, and P Cotoni, and A Broustet
Transmission of ring chromosome 18 46,XX/46,XX,r(18) mosaicism in a mother and ring chromosome 18 syndrome in her son.
January 1992, Annales de genetique,
F Serville, and R Briault, and J L Taillemite, and S Despoisse, and P Cotoni, and A Broustet
Ring chromosome 18 (46, XX, 18r).
January 1969, Humangenetik,
F Serville, and R Briault, and J L Taillemite, and S Despoisse, and P Cotoni, and A Broustet
A case of ring chromosome 3, 46,XX,-3,+r(3)(p26q29).
June 1984, Jinrui idengaku zasshi. The Japanese journal of human genetics,
F Serville, and R Briault, and J L Taillemite, and S Despoisse, and P Cotoni, and A Broustet
Ring 11 chromosome (46,xx,r11(p15q25)).
May 1977, Human genetics,
F Serville, and R Briault, and J L Taillemite, and S Despoisse, and P Cotoni, and A Broustet
Ring chromosome 22 46,XX,r(22)(p11.2----q13.3) presenting with leukemoid reaction.
September 1988, Clinical genetics,
Copied contents to your clipboard!