Biomaterial Database

Familial retinoblastoma and chromosome 13 deletion transmitted via an insertional translocation. 1981

L C Strong, and V M Riccardi, and R E Ferrell, and R S Sparkes

Surviving persons from a kindred in which retinoblastoma occurred over four generations, transmitted by eight unaffected individuals, underwent chromosomal analysis. The results revealed that the development of retinoblastoma was associated with a constitutional chromosome deletion del(13)(q13.1q14.5) and that the unaffected transmitting state was associated with a balanced insertional translocation. These findings indicate that predisposition to retinoblastoma may be attributed to the loss of specific genetic material and that a chromosomal mechanism may explain apparent lack of gene penetrance in certain families. The development of unilateral, and not bilateral, retinoblastoma suggests either that the chromosome deletion is different from the mutation of heritable retinoblastoma in general, or that the chromosome deletion lessens the probability of subsequent somatic carcinogenic events.

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
D002265	Carboxylic Ester Hydrolases	Enzymes which catalyze the hydrolysis of carboxylic acid esters with the formation of an alcohol and a carboxylic acid anion.	Carboxylesterases,Ester Hydrolases, Carboxylic,Hydrolases, Carboxylic Ester
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
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
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012175	Retinoblastoma	A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104)	Glioblastoma, Retinal,Glioma, Retinal,Neuroblastoma, Retinal,Eye Cancer, Retinoblastoma,Familial Retinoblastoma,Hereditary Retinoblastoma,Sporadic Retinoblastoma,Cancer, Retinoblastoma Eye,Cancers, Retinoblastoma Eye,Eye Cancers, Retinoblastoma,Familial Retinoblastomas,Glioblastomas, Retinal,Gliomas, Retinal,Hereditary Retinoblastomas,Neuroblastomas, Retinal,Retinal Glioblastoma,Retinal Glioblastomas,Retinal Glioma,Retinal Gliomas,Retinal Neuroblastoma,Retinal Neuroblastomas,Retinoblastoma Eye Cancer,Retinoblastoma Eye Cancers,Retinoblastoma, Familial,Retinoblastoma, Hereditary,Retinoblastoma, Sporadic,Retinoblastomas,Retinoblastomas, Familial,Retinoblastomas, Hereditary,Retinoblastomas, Sporadic,Sporadic Retinoblastomas
D014178	Translocation, Genetic	A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.	Chromosomal Translocation,Translocation, Chromosomal,Chromosomal Translocations,Genetic Translocation,Genetic Translocations,Translocations, Chromosomal,Translocations, Genetic
D043182	Carboxylesterase	Carboxylesterase is a serine-dependent esterase with wide substrate specificity. The enzyme is involved in the detoxification of XENOBIOTICS and the activation of ester and of amide PRODRUGS.	Ali-esterase,B-esterase,CAP-hydrolyzing Enzyme,Capsaicin-Hydrolyzing Enzyme,Carboxyesterase,Carboxylate Esterase,Carboxylester Lipase,Carboxylesterase B,Carboxylic Ester Hydrolase,Esterase 10,Esterase 13,Esterase 3,Esterase 6A,Esterase 8,Esterase ES-1A,Hydrolase S,Isocarboxazid amidase,Naproxen Esterase,Non-specific Carboxylesterase,Non-specific Esterase,Nonspecific Esterase,Procaine Esterase,Ali esterase,B esterase,CAP hydrolyzing Enzyme,Capsaicin Hydrolyzing Enzyme,Carboxylesterase, Non-specific,ES-1A, Esterase,Enzyme, CAP-hydrolyzing,Enzyme, Capsaicin-Hydrolyzing,Ester Hydrolase, Carboxylic,Esterase ES 1A,Esterase, Carboxylate,Esterase, Naproxen,Esterase, Non-specific,Esterase, Nonspecific,Esterase, Procaine,Hydrolase, Carboxylic Ester,Lipase, Carboxylester,Non specific Carboxylesterase,Non specific Esterase,amidase, Isocarboxazid