Inherited chromosomal translocation in two families (t(4q-;13q+) and t(5q-; 13q+)). 1977

G Watanabe, and Y Kiyoi, and I Takeyama, and S Kawana, and M Yamamoto

Two families with reciprocal translocations, t(4q-; 13q+) and t(5q-; 13q+), are reported. Each proband carried multiple malformations resulting from the unbalanced segregation in two mothers of balanced carriers. The karyotype-phenotype relationship is discussed with reference to other previously reported cases of B/D translocation.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. 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
D008831 Microcephaly A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.) Microlissencephaly,Severe Congenital Microcephaly,Congenital Microcephalies, Severe,Congenital Microcephaly, Severe,Microcephalies,Microcephalies, Severe Congenital,Microcephaly, Severe Congenital,Microlissencephalies,Severe Congenital Microcephalies
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
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
D002875 Chromosomes In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed) Chromosome
D002901 Chromosomes, Human, 13-15 The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15. Chromosomes D,Group D Chromosomes,Chromosome, Group D,Chromosomes, Group D,Group D Chromosome
D002905 Chromosomes, Human, 4-5 The large, submetacentric human chromosomes, called group B in the human chromosome classification. This group consists of chromosome pairs 4 and 5. Chromosomes B,Group B Chromosomes,Chromosome, Group B,Chromosomes, Group B,Group B Chromosome
D004423 Ear The hearing and equilibrium system of the body. It consists of three parts: the EXTERNAL EAR, the MIDDLE EAR, and the INNER EAR. Sound waves are transmitted through this organ where vibration is transduced to nerve signals that pass through the ACOUSTIC NERVE to the CENTRAL NERVOUS SYSTEM. The inner ear also contains the vestibular organ that maintains equilibrium by transducing signals to the VESTIBULAR NERVE. Vestibulocochlear System,Vestibulocochlear Apparatus,Apparatus, Vestibulocochlear,Ears,System, Vestibulocochlear

Related Publications

G Watanabe, and Y Kiyoi, and I Takeyama, and S Kawana, and M Yamamoto
September 1973, Humangenetik,
G Watanabe, and Y Kiyoi, and I Takeyama, and S Kawana, and M Yamamoto
March 1972, Annales de genetique,
G Watanabe, and Y Kiyoi, and I Takeyama, and S Kawana, and M Yamamoto
January 1986, Hereditas,
G Watanabe, and Y Kiyoi, and I Takeyama, and S Kawana, and M Yamamoto
September 1979, Human genetics,
G Watanabe, and Y Kiyoi, and I Takeyama, and S Kawana, and M Yamamoto
January 1980, Human genetics,
G Watanabe, and Y Kiyoi, and I Takeyama, and S Kawana, and M Yamamoto
March 1974, Humangenetik,
G Watanabe, and Y Kiyoi, and I Takeyama, and S Kawana, and M Yamamoto
December 1984, Journal of medical genetics,
G Watanabe, and Y Kiyoi, and I Takeyama, and S Kawana, and M Yamamoto
December 1978, Journal de genetique humaine,
G Watanabe, and Y Kiyoi, and I Takeyama, and S Kawana, and M Yamamoto
November 1996, Prenatal diagnosis,
G Watanabe, and Y Kiyoi, and I Takeyama, and S Kawana, and M Yamamoto
April 1979, Human genetics,
Copied contents to your clipboard!