Biomaterial Database

Fragile X syndrome--a review. 1993

E Keenan, and V Keane, and L Ramsey

Drug Treatment Centre, Trinity Court, Dublin.

Since the discovery of the Fragile X syndrome some 20 years ago, there have been numerous articles concerning clinical features, cognitive profile and transmission. It is a syndrome of importance to all those working in the mental health field and those involved in community health, such as General Practitioners, since it is second only to Down syndrome as a genetic cause of mental handicap.

UI	MeSH Term	Description	Entries
D007806	Language Disorders	Conditions characterized by deficiencies of comprehension or expression of written and spoken forms of language. These include acquired and developmental disorders.	Acquired Language Disorders,Language Disorders, Acquired,Acquired Language Disorder,Language Disorder,Language Disorder, Acquired
D007808	Language Therapy	Rehabilitation of persons with language disorders or training of children with language development disorders.	Language Training,Therapy, Language,Language Therapies,Language Trainings,Therapies, Language,Training, Language,Trainings, Language
D008297	Male		Males
D005600	Fragile X Syndrome	A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)	FRAXA Syndrome,FRAXE Syndrome,Martin-Bell Syndrome,Fra(X) Syndrome,Fragile X Mental Retardation Syndrome,Fragile X-F Mental Retardation Syndrome,Mar (X) Syndrome,Marker X Syndrome,Mental Retardation, X-Linked, Associated With Fragile Site Fraxe,Mental Retardation, X-Linked, Associated With Marxq28,X-Linked Mental Retardation and Macroorchidism,FRAXA Syndromes,FRAXE Syndromes,Fragile X Syndromes,Marker X Syndromes,Martin Bell Syndrome,Syndrome, FRAXA,Syndrome, FRAXE,Syndrome, Fragile X,Syndrome, Marker X,Syndrome, Martin-Bell,Syndromes, FRAXA,Syndromes, FRAXE,Syndromes, Fragile X,Syndromes, Marker X,X Linked Mental Retardation and Macroorchidism
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
D000293	Adolescent	A person 13 to 18 years of age.	Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D001289	Attention Deficit Disorder with Hyperactivity	A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-V)	ADHD,Attention Deficit Disorder,Attention Deficit Hyperactivity Disorder,Brain Dysfunction, Minimal,Hyperkinetic Syndrome,Minimal Brain Dysfunction,ADDH,Attention Deficit Disorders with Hyperactivity,Attention Deficit Hyperactivity Disorders,Attention Deficit-Hyperactivity Disorder,Attention Deficit Disorders,Attention Deficit-Hyperactivity Disorders,Deficit Disorder, Attention,Deficit Disorders, Attention,Deficit-Hyperactivity Disorder, Attention,Deficit-Hyperactivity Disorders, Attention,Disorder, Attention Deficit,Disorder, Attention Deficit-Hyperactivity,Disorders, Attention Deficit,Disorders, Attention Deficit-Hyperactivity,Dysfunction, Minimal Brain,Syndromes, Hyperkinetic