The fragile X syndrome: the patients and their chromosomes

We have reviewed recent publications, mostly from 1980 onwards, concerned with the problem of identifying patients with the fragile X chromosome and mental retardation, considering the two practical sides of the problem, that is, identification by their external appearance and by chromosomal studies...

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Veröffentlicht in:	Journal of medical genetics 1984-04, Vol.21 (2), p.84-91
Hauptverfasser:	De Arce, M A, Kearns, A
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...) Face - abnormalities Female Fragile X Syndrome - diagnosis Fragile X Syndrome - physiopathology Humans Intellectual Disability - genetics Male Medical genetics Medical sciences Phenotype Puberty Sex Chromosome Aberrations - physiopathology Speech Disorders - genetics Testis - abnormalities
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