Biomaterial Database

Fragile X-linked mental retardation: the Martin-Bell syndrome. 1981

B W Richards, and P E Sylvester, and C Brooker

Seven members of the original family of sex-linked mental retardation reported by Martin and Bell in 1943 have been re-examined and five of them proved to carry a fragile X chromosome. Some also display the typical facial appearance associated with this anomaly, and some have macro-orchidism. It is proposed that the condition should be designated "The Martin-Bell syndrome."

UI	MeSH Term	Description	Entries
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
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
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
D002873	Chromosome Fragility	Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.	Chromosomal Fragility,Fragility, Chromosomal,Fragility, Chromosome
D005149	Facial Expression	Observable changes of expression in the face in response to emotional stimuli.	Face Expression,Expression, Face,Expression, Facial,Face Expressions,Facial Expressions
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000368	Aged	A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available.	Elderly
D012729	Sex Chromosome Aberrations	Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.	Sex Chromosome Abnormalities,Abnormalities, Sex Chromosome,Chromosome Abnormalities, Sex,Aberration, Sex Chromosome,Aberrations, Sex Chromosome,Abnormality, Sex Chromosome,Chromosome Aberration, Sex,Chromosome Aberrations, Sex,Chromosome Abnormality, Sex,Sex Chromosome Aberration,Sex Chromosome Abnormality

Related Publications

B W Richards, and P E Sylvester, and C Brooker

[Martin-Bell syndrome (mental retardation with fragile X syndrome (review of the literature)].

January 1991, Zhurnal nevropatologii i psikhiatrii imeni S.S. Korsakova (Moscow, Russia : 1952),

B W Richards, and P E Sylvester, and C Brooker

X-linked mental retardation. I. Martin-Bell syndrome (report of 18 families).

December 1987, Journal de genetique humaine,

B W Richards, and P E Sylvester, and C Brooker

Fragile X (Martin-Bell) syndrome.

January 1994, Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry,

B W Richards, and P E Sylvester, and C Brooker

Fragile X (Martin Bell) syndrome.

May 2002, Dental update,

B W Richards, and P E Sylvester, and C Brooker

[The fragile X (Martin-Bell) syndrome].

January 1990, Lijecnicki vjesnik,

B W Richards, and P E Sylvester, and C Brooker

[X-linked mental retardation, fragile X syndrome].

January 2001, Ryoikibetsu shokogun shirizu,

B W Richards, and P E Sylvester, and C Brooker

Normal male carriers in the fra(X) form of X-linked mental retardation (Martin-Bell syndrome).

January 1986, American journal of medical genetics,